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L. P. Rowland - One of the best experts on this subject based on the ideXlab platform.

  • Linkage of Miyoshi myopathy (Distal autosomal recessive Muscular Dystrophy) locus to chromosome 2p12-14.
    Neurology, 1995
    Co-Authors: Khemissa Bejaoui, Diane Mckenna-yasek, K. Hirabayashi, F. Hentati, Jonathan L. Haines, C. Ben Hamida, S. Belal, R. G. Miller, J. Weissenbach, L. P. Rowland
    Abstract:

    Miyoshi myopathy (MM) is a young-adult-onset, autosomal recessive Distal Muscular Dystrophy initially affecting the plantar flexors. We analyzed 12 MM families, five with consanguineous marriage, for chromosomal linkage using polymorphic microsatellite DNA markers to map the MM gene. A significant lod score was obtained with the 2p12-14 locus D2S291 (Zmax = 15.3 at theta = 0). Two additional 2p12-14 markers, D2S286 (Z = 10.7 at theta = 0) and D2S292 (Z = 7.2 at theta = 0.05), also gave significant lod scores. These markers will be useful for diagnosis of symptomatic and presymptomatic patients, prenatal and carrier diagnosis of family members carrying MM, and ultimately identification of a gene responsible for MM.

  • linkage of miyoshi myopathy Distal autosomal recessive Muscular Dystrophy locus to chromosome 2p12 14
    Neurology, 1995
    Co-Authors: Khemissa Bejaoui, K. Hirabayashi, F. Hentati, Jonathan L. Haines, S. Belal, R. G. Miller, J. Weissenbach, Ben C Hamida, Diane Mckennayasek, L. P. Rowland
    Abstract:

    Article abstract-Miyoshi myopathy (MM) is a young-adult-onset, autosomal recessive Distal Muscular Dystrophy initially affecting the plantar flexors. We analyzed 12 MM families, five with consanguineous marriage, for chromosomal linkage using polymorphic microsatellite DNA markers to map the MM gene. A significant lod score was obtained with the 2p12-14 locus D2S291 (Z max = 15.3 at theta = 0). Two additional 2p12-14 markers, D2S286 (Z = 10.7 at theta = 0) and D2S292 (Z = 7.2 at theta = 0.05), also gave significant lod scores. These markers will be useful for diagnosis of symptomatic and presymptomatic patients, prenatal and carrier diagnosis of family members carrying MM, and ultimately identification of a gene responsible for MM. NEUROLOGY 1995;45: 768-772

R Bashir - One of the best experts on this subject based on the ideXlab platform.

  • selective pattern of muscle involvement seen in Distal Muscular Dystrophy associated with anoctamin 5 mutations a follow up muscle mri study
    Neuromuscular Disorders, 2012
    Co-Authors: Ibrahim Mahjneh, R Bashir, Sari Kiuruenari, W H J P Linssen, Antti Lamminen, Marianne De Visser
    Abstract:

    Anoctaminopathy is a new Muscular Dystrophy caused by mutations in the ANO5 gene. ANO5 mutations cause Distal and proximal phenotypes. We report here a follow-up muscle MRI study on five patients affected by Distal form of anoctaminopathy. T1 weighted scans showed subsequent involvement of gastrocnemius medialis and soleus, hip adductors, hamstrings, gastrocnemius lateralis and quadriceps muscles, and later on tensor fascia lata, gluteus minimus and biceps brachii muscles, respectively. The STIR weighted images showed in the early stages widely distributed hyperintense signals, myoedema, in the adductors, hamstrings, and quadriceps muscles, which at that time have normal T1 signals. All patients showed asymmetry of muscle involvement both clinically and on muscle imaging. The progression of muscle involvement was relatively slow. We conclude that the pattern of muscle involvement seen in patients with Distal myopathy with anoctamin 5 mutations (MMD3) is typical and can thus be useful during the differential diagnosis process allowing for a more targeted molecular approach.

  • a new Distal myopathy with mutation in anoctamin 5
    Neuromuscular Disorders, 2010
    Co-Authors: Ibrahim Mahjneh, Sari Kiuruenari, Antti Lamminen, Jyoti K Jaiswal, Mirja Somer, Gareth Marlow, R Bashir
    Abstract:

    We have been following clinically and with muscle MRI for the past 3-decades a Finnish family with two patients with Distal Muscular Dystrophy. Previously we demonstrated the cellular defect in these patients to be defective membrane repair and more recently have identified the causative gene to be anoctamin 5 (ANO5). The disorder seen in these patients is characterized by onset in the third decade. First symptoms were burning sensation on the calves and later on calf tightness during running. Muscle weakness and wasting were asymmetric and early involving the calf muscles, later spread to the thigh muscles. Biceps brachi was later manifestation. Clinical course was slow. CK levels were high. Muscle biopsy showed dystrophic pattern and multifocal disruption of the sarcolemmal membrane but no subsarcolemmal vesicle accumulation nor active inflammation. We conclude that the disease seen in our cases is a new separate clinical, genetic and histopathologic entity to include within the classification of autosomal recessive Distal Muscular dystrophies.

  • the third human fer 1 like protein is highly similar to dysferlin
    Genomics, 2000
    Co-Authors: S. Britton, Kate Bushby, Sharon Keers, Elizabeth Vafiadaki, Tom C Freeman, Ruth Harrison, R Bashir
    Abstract:

    Dysferlin, the protein product of the gene mutated in patients with an autosomal recessive limb-girdle Muscular Dystrophy type 2B (LGMD2B) and a Distal Muscular Dystrophy, Miyoshi myopathy, is homologous to a Caenorhabditis elegans spermatogenesis factor, FER-1. Analysis of fer-1 mutants and of sequence predictions of the FER-1 and dysferlin ORFs has predicted a role in membrane fusion. Otoferlin, another human FER-1-like protein (ferlin), has recently been shown to be responsible for autosomal recessive nonsyndromic deafness (DFNB9). In this report we describe the third human ferlin gene, FER1L3, which maps to chromosome 10q23.3. Expression analysis of the orthologous mouse gene shows ubiquitous expression but predominant expression in the eye, esophagus, and salivary gland. All the ferlins are characterized by sequences corresponding to multiple C2 domains that share the highest level of homology with the C2A domain of rat synaptotagmin III. They are predicted to be Type II transmembrane proteins, with the majority of the protein facing the cytoplasm anchored by the C-terminal transmembrane domain. Sequence and predicted structural comparisons have highlighted the high degree of similarity of dysferlin and FER1L3, which have sequences corresponding to six C2 domains and which share more than 60% amino acid sequence identity.

  • identical mutation in patients with limb girdle Muscular Dystrophy type 2b or miyoshi myopathy suggests a role for modifier gene s
    Human Molecular Genetics, 1999
    Co-Authors: Tracey Weiler, R Bashir, Sharon Keers, S. Britton, Louise V. B. Anderson, Elizabeth Vafiadaki, Keith Davison, Jennifer A. Moss, Edward Nylen, Cheryl R Greenberg
    Abstract:

    Limb girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM), a Distal Muscular Dystrophy, are both caused by mutations in the recently cloned gene dysferlin, gene symbol DYSF. Two large pedigrees have been described which have both types of patient in the same families. Moreover, in both pedigrees LGMD2B and MM patients are homozygous for haplotypes of the critical region. This suggested that the same mutation in the same gene would lead to both LGMD2B or MM in these families and that additional factors were needed to explain the development of the different clinical phenotypes. In the present paper we show that in one of these families Pro791 of dysferlin is changed to an Arg residue. Both the LGMD2B and MM patients in this kindred are homozygous for this mutation, as are four additional patients from two previously unpublished families. Haplotype analyses suggest a common origin of the mutation in all the patients. On western blots of muscle, LGMD2B and MM patients show a similar abundance in dysferlin staining of 15 and 11%, respectively. Normal tissue sections show that dysferlin localizes to the sarcolemma while tissue sections from MM and LGMD patients show minimal staining which is indistinguishable between the two types. These findings emphasize the role for the dysferlin gene as being responsible for both LGMD2B and MM, but that the distinction between these two clinical phenotypes requires the identification of additional factor(s), such as modifier gene(s).

  • genetic and physical mapping at the limb girdle Muscular Dystrophy locus lgmd2b on chromosome 2p
    Genomics, 1996
    Co-Authors: R Bashir, Sharon Keers, Rita Passosbueno, Denis Le Paslier, Mayana Zatz, Miriam H Meisler, Jean Weissenbach, Tom Strachan, Kate Bushby
    Abstract:

    The limb-girdle Muscular dystrophies (LGMD) are a genetically heterogeneous group of disorders, different forms of which have been mapped to at least six distinct genetic loci. We have mapped to at least six distinct genetic loci. We have mapped an autosomal recessive form of LGMD (LGMD2B) to chromosome 2p13. Two other conditions have been shown to map to this region or to the homologous region in mouse: a gene for a form of autosomal recessive Distal Muscular Dystrophy, Miyoshi myopathy, shows linkage to the same markers on chromosome 2p as LGMD2B, and an autosomal recessive mouse mutation mnd2, in which there is rapidly progressive paralysis and muscle atrophy, has been mapped to mouse chromosome 6 to a region showing conserved synteny with human chromosome 2p12-p13. We have assembled a 6-cM YAC contig spanning the LGMD2B locus and have mapped seven genes and 13 anonymous polymorphic microsatellites to it. Using haplotype analysis in the linked families, we have narrowed our region of interest to a 0-cM interval between D2S2113 and D2S145, which does not overlap with the critical region for mnd2 in mouse. Use of these most closely linked markers will help to determine the relationship between LGMD2B and Miyoshi myopathy.more » YACs selected from our contig will be the starting point for the cloning of the LGMD2B gene and thereby establish the biological basis for this form of Muscular Dystrophy and its relationship with the other limb-girdle Muscular dystrophies. 26 refs., 6 figs.« less

Khemissa Bejaoui - One of the best experts on this subject based on the ideXlab platform.

  • Linkage of Miyoshi myopathy (Distal autosomal recessive Muscular Dystrophy) locus to chromosome 2p12-14.
    Neurology, 1995
    Co-Authors: Khemissa Bejaoui, Diane Mckenna-yasek, K. Hirabayashi, F. Hentati, Jonathan L. Haines, C. Ben Hamida, S. Belal, R. G. Miller, J. Weissenbach, L. P. Rowland
    Abstract:

    Miyoshi myopathy (MM) is a young-adult-onset, autosomal recessive Distal Muscular Dystrophy initially affecting the plantar flexors. We analyzed 12 MM families, five with consanguineous marriage, for chromosomal linkage using polymorphic microsatellite DNA markers to map the MM gene. A significant lod score was obtained with the 2p12-14 locus D2S291 (Zmax = 15.3 at theta = 0). Two additional 2p12-14 markers, D2S286 (Z = 10.7 at theta = 0) and D2S292 (Z = 7.2 at theta = 0.05), also gave significant lod scores. These markers will be useful for diagnosis of symptomatic and presymptomatic patients, prenatal and carrier diagnosis of family members carrying MM, and ultimately identification of a gene responsible for MM.

  • linkage of miyoshi myopathy Distal autosomal recessive Muscular Dystrophy locus to chromosome 2p12 14
    Neurology, 1995
    Co-Authors: Khemissa Bejaoui, K. Hirabayashi, F. Hentati, Jonathan L. Haines, S. Belal, R. G. Miller, J. Weissenbach, Ben C Hamida, Diane Mckennayasek, L. P. Rowland
    Abstract:

    Article abstract-Miyoshi myopathy (MM) is a young-adult-onset, autosomal recessive Distal Muscular Dystrophy initially affecting the plantar flexors. We analyzed 12 MM families, five with consanguineous marriage, for chromosomal linkage using polymorphic microsatellite DNA markers to map the MM gene. A significant lod score was obtained with the 2p12-14 locus D2S291 (Z max = 15.3 at theta = 0). Two additional 2p12-14 markers, D2S286 (Z = 10.7 at theta = 0) and D2S292 (Z = 7.2 at theta = 0.05), also gave significant lod scores. These markers will be useful for diagnosis of symptomatic and presymptomatic patients, prenatal and carrier diagnosis of family members carrying MM, and ultimately identification of a gene responsible for MM. NEUROLOGY 1995;45: 768-772

Jonathan L. Haines - One of the best experts on this subject based on the ideXlab platform.

  • Linkage of Miyoshi myopathy (Distal autosomal recessive Muscular Dystrophy) locus to chromosome 2p12-14.
    Neurology, 1995
    Co-Authors: Khemissa Bejaoui, Diane Mckenna-yasek, K. Hirabayashi, F. Hentati, Jonathan L. Haines, C. Ben Hamida, S. Belal, R. G. Miller, J. Weissenbach, L. P. Rowland
    Abstract:

    Miyoshi myopathy (MM) is a young-adult-onset, autosomal recessive Distal Muscular Dystrophy initially affecting the plantar flexors. We analyzed 12 MM families, five with consanguineous marriage, for chromosomal linkage using polymorphic microsatellite DNA markers to map the MM gene. A significant lod score was obtained with the 2p12-14 locus D2S291 (Zmax = 15.3 at theta = 0). Two additional 2p12-14 markers, D2S286 (Z = 10.7 at theta = 0) and D2S292 (Z = 7.2 at theta = 0.05), also gave significant lod scores. These markers will be useful for diagnosis of symptomatic and presymptomatic patients, prenatal and carrier diagnosis of family members carrying MM, and ultimately identification of a gene responsible for MM.

  • linkage of miyoshi myopathy Distal autosomal recessive Muscular Dystrophy locus to chromosome 2p12 14
    Neurology, 1995
    Co-Authors: Khemissa Bejaoui, K. Hirabayashi, F. Hentati, Jonathan L. Haines, S. Belal, R. G. Miller, J. Weissenbach, Ben C Hamida, Diane Mckennayasek, L. P. Rowland
    Abstract:

    Article abstract-Miyoshi myopathy (MM) is a young-adult-onset, autosomal recessive Distal Muscular Dystrophy initially affecting the plantar flexors. We analyzed 12 MM families, five with consanguineous marriage, for chromosomal linkage using polymorphic microsatellite DNA markers to map the MM gene. A significant lod score was obtained with the 2p12-14 locus D2S291 (Z max = 15.3 at theta = 0). Two additional 2p12-14 markers, D2S286 (Z = 10.7 at theta = 0) and D2S292 (Z = 7.2 at theta = 0.05), also gave significant lod scores. These markers will be useful for diagnosis of symptomatic and presymptomatic patients, prenatal and carrier diagnosis of family members carrying MM, and ultimately identification of a gene responsible for MM. NEUROLOGY 1995;45: 768-772

K. Hirabayashi - One of the best experts on this subject based on the ideXlab platform.

  • Linkage of Miyoshi myopathy (Distal autosomal recessive Muscular Dystrophy) locus to chromosome 2p12-14.
    Neurology, 1995
    Co-Authors: Khemissa Bejaoui, Diane Mckenna-yasek, K. Hirabayashi, F. Hentati, Jonathan L. Haines, C. Ben Hamida, S. Belal, R. G. Miller, J. Weissenbach, L. P. Rowland
    Abstract:

    Miyoshi myopathy (MM) is a young-adult-onset, autosomal recessive Distal Muscular Dystrophy initially affecting the plantar flexors. We analyzed 12 MM families, five with consanguineous marriage, for chromosomal linkage using polymorphic microsatellite DNA markers to map the MM gene. A significant lod score was obtained with the 2p12-14 locus D2S291 (Zmax = 15.3 at theta = 0). Two additional 2p12-14 markers, D2S286 (Z = 10.7 at theta = 0) and D2S292 (Z = 7.2 at theta = 0.05), also gave significant lod scores. These markers will be useful for diagnosis of symptomatic and presymptomatic patients, prenatal and carrier diagnosis of family members carrying MM, and ultimately identification of a gene responsible for MM.

  • linkage of miyoshi myopathy Distal autosomal recessive Muscular Dystrophy locus to chromosome 2p12 14
    Neurology, 1995
    Co-Authors: Khemissa Bejaoui, K. Hirabayashi, F. Hentati, Jonathan L. Haines, S. Belal, R. G. Miller, J. Weissenbach, Ben C Hamida, Diane Mckennayasek, L. P. Rowland
    Abstract:

    Article abstract-Miyoshi myopathy (MM) is a young-adult-onset, autosomal recessive Distal Muscular Dystrophy initially affecting the plantar flexors. We analyzed 12 MM families, five with consanguineous marriage, for chromosomal linkage using polymorphic microsatellite DNA markers to map the MM gene. A significant lod score was obtained with the 2p12-14 locus D2S291 (Z max = 15.3 at theta = 0). Two additional 2p12-14 markers, D2S286 (Z = 10.7 at theta = 0) and D2S292 (Z = 7.2 at theta = 0.05), also gave significant lod scores. These markers will be useful for diagnosis of symptomatic and presymptomatic patients, prenatal and carrier diagnosis of family members carrying MM, and ultimately identification of a gene responsible for MM. NEUROLOGY 1995;45: 768-772