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Article

A new dysferlin gene mutation in a Portuguese family with Miyoshi myopathy.

BMJ case reports - 19 Jul 2021

Ganchinho Lucas Sandra, Vieira Santos Inês, Pencas Alfaiate Filipe Jorge, Lino Ireneia

Abstract excerpt

Dysferlinopathies are autosomal recessive muscular dystrophies caused by mutations in the dysferlin gene (DYSF). A 33-year-old man was born to a non-consanguineous couple. At the age of 25 he stared to feel weakness of the distal lower limbs and also experienced episodes of rhabdomyolysis. Electromyography showed a myopathic pattern, and muscle biopsy revealed dystrophic changes with absence of dysferlin. Genetic...

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Identifiers

PMID: 34281941
DOI: 10.1136/bcr-2021-242341
PMCID: PMC8291323

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