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Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report [PDF]

Molecular Syndromology, 2023
<b><i>Introduction:</i></b> Myotonic dystrophy type 1 (DM1) is an autosomal dominant neuromuscular disease whose pattern of weakness is predominantly distal. Limb-girdle muscular dystrophy type 2B/R2-dysferlin-related (LGMD2B/R2) is another neuromuscular disease, which presents an autosomal recessive inheritance and is marked by
Lucas Augusto, Hauschild, Taciana, Seixas Maia da Silva, Pablo Brea, Winckler, Laércio, Moreira Cardoso-Júnior, Jonas Alex Morales, Saute, Karina Carvalho, Donis   +5 more
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Limb-Girdle Muscular Dystrophy Type 2I

, 2014
Limb-girdle muscular dystrophy type 2B and the distal muscular dystrophy of Miyoshi (MM) are caused by mutations in the DYSF gene encoding the protein dysferlin (Table 10.1). Although the clinical features of LGMD2B and MM are different, both phenotypes can be detected among patients belonging to the same family.
Corrado Angelini
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Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF

Neuromuscular Disorders, 2007
Limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi Myopathy are caused by mutations in the dysferlin gene. The phenotype of these allelic disease variants can vary considerably. We report on an adolescent female with a severe and rapidly progressing clinical course of LGMD2B which has been suggested by the muscle histopathology and Western ...
Alexander, Diers, Miriam, Carl, Gisela, Stoltenburg-Didinger, Matthias, Vorgerd, Simone, Spuler   +4 more
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A RARE CASE OF DYSFERLINOPATHY – LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2B

PARIPEX INDIAN JOURNAL OF RESEARCH, 2023
A 49 years old male presented with complaints of difficulty in breathing and swallowing since 1 month. Patient had a normal childhood till 7 years of age when he started developing bilateral lower limb weakness causing recurrent fall which progressed gradually over time and since 39 years of age he was unable to stand from squatting position without ...
Buddhadeb Majumder, Pradeep Tiwari, Santwana Chandraka, Nivedita Moulik   +3 more
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Progressive dysphagia in limb‐girdle muscular dystrophy type 2B

Muscle & Nerve, 2011
AbstractDysphagia has not been reported in genetically confirmed limb‐girdle muscular dystrophy type 2B (LGMD2B).A 40‐year‐old woman reported exercise‐induced calf pain at age 34, followed by progressive lower and upper limb weakness. At age 38, progressive dysphagia for solids, and subsequently liquids, ensued.
Richard, Walsh, Fiona, Hill, Niall, Breslin, Sean, Connolly, Francesca M, Brett, Richard, Charlton, Rita, Barresi, Dominick J H, McCabe   +7 more
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Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy

Neurology, 2000
Limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM) are autosomal recessive disorders caused by mutations in the dysferlin gene on chromosome 2p13. The authors studied a large Russian family with both LGMD2B and MM. All affected individuals, as well as one preclinical boy with dystrophic changes on muscle biopsy, were found to be ...
S N, Illarioshkin, I A, Ivanova-Smolenskaya, C R, Greenberg, E, Nylen, V S, Sukhorukov, V V, Poleshchuk, E D, Markova, K, Wrogemann   +7 more
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Limb-girdle muscular dystrophy type 2B: An unusual cause of proximal muscular weakness in Saudi Arabia

Journal of Back and Musculoskeletal Rehabilitation, 2018
Dysferlinopathies encompass a group of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle. It is a genetic disorder caused by a mutation in the dysferlin gene (DYSF) with an autosomal recessive mode of inheritance.
Hussein, Algahtani, Bader, Shirah, Ali H, Alassiri, Ben Attia, Habib, Rakan, Almuhanna, Mohamed Firoze, Ahamed   +5 more
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Compound heterozygous DYSF variants causing limb‐girdle muscular dystrophy type 2B in a Chinese family

The Journal of Gene Medicine, 2020
AbstractBackgroundThe dysferlin gene or the DYSF gene encodes the Ca2+‐dependent phospholipid‐binding protein dysferlin, which belongs to the ferlin family and is associated with muscle membrane regeneration and repair. Variants in the DYSF gene are responsible for limb‐girdle muscular dystrophy type 2B (LGMD2B), also called limb‐girdle muscular ...
Liangshan Li, Zhongcui Jing, Lei Cheng, Wenmiao Liu, Haiyan Wang, Yinglei Xu, Xueping Zheng, Xiaoling Yu, Shiguo Liu   +8 more
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Evaluation of cardiomyopathy with two‐dimensional speckle tracking echocardiography in limb‐girdle muscular dystrophy type 2A and 2B

Journal of Clinical Ultrasound, 2022
AbstractPurposeCardiac involvement in limb‐girdle muscular dystrophy (LGMD)2A and LGMD2B, the most common subgroups of LGMD, is controversial. Our study aims to determine whether myocardial dysfunction develops in LGMD2A and LGMD2B patients.MethodsThe study included 16 LGMD2A, 12 LGMD2B patients, and 48 healthy individuals.
Abdurrahman Akyüz, Murat Çap, Süleyman Varsak, Ferhat Işık, Askeri Turken, Ercan Taştan, Erkan Baysal   +6 more
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