Limb Girdle Muscular Dystrophy (LGMD): Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2015 We report a young male of autosomal recessive limb girdle muscular dystrophy (LGMD) with positive family history presented with gradual onset proximal muscle weakness in all four limbs since eight years and thinning of shoulders, arms and thighs ...
Shubhangi A. Kanitkar +4 more
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Targeted next‐generation sequencing determined a novel SGCG variant that is associated with limb‐girdle muscular dystrophy type 2C: A case report [PDF]
Clinical Case Reports, 2023 Limb‐girdle muscular dystrophy‐type 2C (LGMD2C) is caused by mutations in the SGCG gene. Here, we report a case of a 26‐year‐old male who had inactive walking due to proximal muscle weakness.
Nam‐Chung Tran +9 more
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Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN Gene [PDF]
International Medical Case Reports JournalOmar Ahmed Alghamdi,1 Osama Obaid,2 Ahmed Gamal Sayed,3 Hania Farhan,3 Jamal Sayed1 1Department of Pediatrics, Security Forces Hospital Makkah, (SFHM), Makkah, Saudi Arabia; 2Department of Pediatrics, Maternity and Children Hospital, Makkah, Saudi Arabia;
Alghamdi OA +4 more
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A case of paraplegia due to limb girdle muscular dystrophy with coexisting gitelman’s syndrome
Asian Journal of Medical Sciences, 2016 Muscular dystrophies are a rare group of disorders affecting the skeletal muscles, which are progressive, hereditary and degenerative. A sudden worsening of the condition should raise the possibility of hypokalemia, followed by its evaluation and ...
Robin George Manappallil
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Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD) [PDF]
CellsObjective: To identify novel biomarkers as an alternative diagnostic tool for limb girdle muscular dystrophy (LGMD). Background: LGMD encompasses a group of muscular dystrophies characterized by proximal muscles weakness, elevated CK levels and ...
Sara Aguti +9 more
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Transgenic Overexpression of LARGE Induces alpha-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle [PDF]
, 2010 Background: LARGE is one of seven putative or demonstrated glycosyltransferase enzymes defective in a common group of muscular dystrophies with reduced glycosylation of alpha-dystroglycan.
Brockington, M +7 more
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Medičnì Perspektivi, 2021 The paper reports on two cases of young women from Ukraine with autosomal recessive limb-girdle muscular dystrophy type 2A with different age of symptoms onset and an absence of any family history presented with gradual onset of proximal muscle weakness
Yu.H. Antipkin +5 more
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New classification of limb-girdle muscular dystrophy
Нервно-мышечные болезни, 2022 A new classification of limb‑girdle muscular dystrophy, which was adopted in 2018, is given. The reasons why there was a need to revise the classification are indicated. A new definition of this pathology is given.
O. P. Sidorova +3 more
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Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring
Molecular Therapy: Methods & Clinical Development, 2020 Muscular dystrophies are a group of inherited disorders that primarily affect the muscle tissues. Across the muscular dystrophies, symptoms commonly compromise the quality of life in all areas of functioning.
Andrie Koutsoulidou +1 more
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The prevalence of hereditary neuromuscular disorders in Northern Norway
Brain and Behavior, 2021 Aim To investigate the point prevalence of hereditary neuromuscular disorders on January 1, 2020 in Northern Norway. Methods From January 1, 1999, until January 1, 2020, we screened medical and genetic hospital records in Northern Norway for hereditary ...
Kai Ivar Müller +4 more
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