Anoctamin 5 muscular dystrophy mimicking metabolic myopathy

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Mutations in ANO5 gene cause a large variety of muscle disorders including asymptomatic hyperCKaemia, exertion intolerance, limb girdle muscular dystrophy and distal myopathy. We present five patients (4 Male / 1 Female) from four unrelated families carrying homozygous or compound heterozygous ANO5 mutations (p.Ile300Asnfs*35/p.His334Ilefs*17, p.Arg642Ter, p.Asn64Leufs*15, p.Asn64Leufs*15/ p.Gly231Val). Age at disease onset varied (from 11 to 29 years). Recurrent rhabdomyolysis (RM) was the initial and main clinical feature in two patients.

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