Key result
Novel DYSF gene mutation linked to progressively worsening Miyoshi myopathy over 8 years.
Case Report (n=1)
No
This is the first report of the c3367_3368del DYSF gene mutation causing Miyoshi myopathy in a Portuguese family.
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Extends DYSF mutational spectrum in Miyoshi myopathy; hypothesis-generating and should not yet change practice.
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 analysis was positive for a mutation in the c3367_3368del DYSF gene (p.Lys1123GLUFS*2). After 8 years of disease evolution the symptomatology worsened. This is the first report of this mutation of the DYSF gene identified in a non-consanguineous Portuguese family, studied over 8 years. We believe the mutation is responsible for the Miyoshi myopathy. Disease progression cannot be predicted in either the patient or carrier family because there are no similar cases previously described in the literature.
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Lucas et al. (2021) conducted a case report in Miyoshi myopathy (n=1). c3367_3368del DYSF gene mutation was evaluated on Disease progression. A novel c3367_3368del DYSF gene mutation was identified in a 33-year-old Portuguese man with Miyoshi myopathy, whose symptoms worsened over 8 years of follow-up.
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