Results 141 to 150 of about 2,813 (174)
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Neuromuscular Disorders, 2006
The diagnosis of isolated heterozygotes for recessive LGMD is quite difficult because no specific biochemical or protein assays are available, and the molecular analysis is not feasible due to the wide genetic heterogeneity. We investigated a series of definite heterozygotes for different forms of LGMD to determine whether the carrier status will ...
FANIN M +2 more
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The diagnosis of isolated heterozygotes for recessive LGMD is quite difficult because no specific biochemical or protein assays are available, and the molecular analysis is not feasible due to the wide genetic heterogeneity. We investigated a series of definite heterozygotes for different forms of LGMD to determine whether the carrier status will ...
FANIN M +2 more
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Muscle & Nerve, 2013
Introduction: Diagnosis of the limb‐girdle muscular dystrophies (LGMDs) has been facilitated by the use of immunofluorescence microscopy, Western blot analysis, and rapid genetic testing. Methods: We identified 7 patients with LGMD2B or Miyoshi myopathy (MM) phenotypes and performed detailed history, physical examination, and mutation analyses of ...
Mats I, Nilsson +3 more
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Introduction: Diagnosis of the limb‐girdle muscular dystrophies (LGMDs) has been facilitated by the use of immunofluorescence microscopy, Western blot analysis, and rapid genetic testing. Methods: We identified 7 patients with LGMD2B or Miyoshi myopathy (MM) phenotypes and performed detailed history, physical examination, and mutation analyses of ...
Mats I, Nilsson +3 more
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Neurology and Clinical Neuroscience, 2020
AbstractWe present a 34‐year‐old woman, from Philippines, diagnosed limb‐girdle muscular dystrophy type 2B with compound heterozygous nonsense mutation W1478* and novel deletion of exons 43‐46 of the dysferlin gene. These loss‐of‐function mutations do not seem to be predictive of a severer clinical course.
Kristine Joyce L. Porto +8 more
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AbstractWe present a 34‐year‐old woman, from Philippines, diagnosed limb‐girdle muscular dystrophy type 2B with compound heterozygous nonsense mutation W1478* and novel deletion of exons 43‐46 of the dysferlin gene. These loss‐of‐function mutations do not seem to be predictive of a severer clinical course.
Kristine Joyce L. Porto +8 more
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Nature Genetics, 1998
The limb-girdle muscular dystrophies are a genetically heterogeneous group of inherited progressive muscle disorders that affect mainly the proximal musculature, with evidence for at least three autosomal dominant and eight autosomal recessive loci. The latter mostly involve mutations in genes encoding components of the dystrophin-associated complex ...
R, Bashir +17 more
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The limb-girdle muscular dystrophies are a genetically heterogeneous group of inherited progressive muscle disorders that affect mainly the proximal musculature, with evidence for at least three autosomal dominant and eight autosomal recessive loci. The latter mostly involve mutations in genes encoding components of the dystrophin-associated complex ...
R, Bashir +17 more
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[A patient with limb girdle muscular dystrophy type 2B (LGMD2B) manifesting cardiomyopathy].
Rinsho shinkeigaku = Clinical neurology, 2004A 57-year-old woman first noticed difficulty in walking at the age of 34 years, and since then muscle wasting and weakness in the lower limbs and proximal portion of the upper limbs had progressed slowly. Serum CK was elevated. Immunohistochemical study of the biceps brachii muscle showed deficiency of dysferlin in sarcolemma, and the dysferlin gene ...
Satoshi, Kuru +7 more
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P1.20 Clinical features of limb-girdle muscular dystrophy type 2B with the c.2997G > T mutation
Neuromuscular Disorders, 2010Background: Dysferlinopathy refers to a group of autosomal recessive muscular dystrophies caused by mutations in DYSF, which encodes dysferlin working for calcium-dependent membrane repair in skeletal muscle. The disease group includes three distinct disorders; limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM) and distal anterior ...
T. Takahashi +13 more
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Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2019
To analyze mutations of DYSF gene in two pedigrees affected with limb-girdle muscular dystrophy 2B (LGMD-2B).Genomic DNA was extracted from peripheral blood samples of the two probands and unaffected family members. Variant sites were screened by next-generation sequencing using gene panel as well as Sanger sequencing.Four pathogenic mutations of the ...
Zhenjun, Liu +6 more
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To analyze mutations of DYSF gene in two pedigrees affected with limb-girdle muscular dystrophy 2B (LGMD-2B).Genomic DNA was extracted from peripheral blood samples of the two probands and unaffected family members. Variant sites were screened by next-generation sequencing using gene panel as well as Sanger sequencing.Four pathogenic mutations of the ...
Zhenjun, Liu +6 more
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Rinsho shinkeigaku = Clinical neurology, 2006
Mutations in the dysferlin gene cause both Miyoshi myopathy (MM) and limb girdle muscular dystrophy 2B (LGMD2B). We examined patients with dysferlinopathy in Japan, and identified 28 and 12 different mutations respectively in MM and LGMD2B patients. The mean age at onset of the patients with MM was 22 +/- 9 years (range 12-48 years) and that of the ...
Masashi, Aoki, Toshiaki, Takahashi
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Mutations in the dysferlin gene cause both Miyoshi myopathy (MM) and limb girdle muscular dystrophy 2B (LGMD2B). We examined patients with dysferlinopathy in Japan, and identified 28 and 12 different mutations respectively in MM and LGMD2B patients. The mean age at onset of the patients with MM was 22 +/- 9 years (range 12-48 years) and that of the ...
Masashi, Aoki, Toshiaki, Takahashi
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A Novel Gene Therapy Shows Promise for Limb Girdle Muscular Dystrophy Type 2B
Neurology Today, 2022openaire +1 more source