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Article

Very late-onset limb-girdle muscular dystrophy type 2D: A milder form with a normal muscle biopsy.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Feb 2020

Oliveira Santos Miguel, Coelho Pedro, Roque Rafael, Conceição Isabel

Abstract excerpt

Sarcoglycanopathies are a genetically heterogeneous group of autosomal recessive limb-girdle muscular dystrophies (LGMD) caused by mutations in sarcoglycan genes. We report a Portuguese patient with a very late-onset LGMD phenotype, whose muscle biopsy and immunostaining, in particular for α-sarcoglycan, were unrevealing. Muscle MRI showed a predominant, bilateral and symmetric involvement of the tight muscles...

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Identifiers

PMID: 31836381
DOI: 10.1016/j.jocn.2019.12.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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