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Article

Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutations.

Archives of neurology - 1 Sept 2010

Giordano Carla, Pichiorri Floriana, Blakely Emma L, Perli Elena, Orlandi Maurizia, Gallo Pietro, Taylor Robert W, Inghilleri Maurizio, d'Amati Giulia

Abstract excerpt

OBJECTIVE: To describe an unusual clinical phenotype in an adult harboring 2 compound heterozygous polymerase γ (POLG) mutations. DESIGN: Case report. SETTING: University-based outpatient neurology clinic and pathology and genetics laboratory. PATIENT: A 27-year-old man presenting with isolated distal myopathy of the upper extremities in the absence of sensory disturbances. RESULTS: Histochemical analysis of a...

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Identifiers

PMID: 20837862
DOI: 10.1001/archneurol.2010.200

Genes

POLG

Variants

Provenance

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