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Article

Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing: A case report.

Medicine - 10 Jul 2020

Lee Sook Joung, Choi Eunseok, Shin Soyoung, Park Joonhong

Abstract excerpt

RATIONALE: The limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of disorders characterized by progressive proximal muscle weakness and have more than 30 different subtypes linked to specific gene loci, which manifest as highly overlapping and heterogeneous phenotypes. PATIENT CONCERNS: A 59-year-old male presented for evaluation of progressive muscle weakness since his late twenties. When he was...

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Share to Dysferlin
Share to Gait Disorders, Neurologic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32664072
DOI: 10.1097/MD.0000000000020810
PMCID: PMC7360247

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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