In:
Muscle & Nerve, Wiley, Vol. 50, No. 2 ( 2014-08), p. 292-295
Abstract:
Introduction : A 61‐year‐old woman with a 5‐year history of progressive muscle weakness and atrophy had a muscle biopsy characterized by a combination of dystrophic features (necrotic fibers and endomysial fibrosis) and mitochondrial alterations [ragged‐red, cytochrome c oxidase (COX)‐negative fibers]. Methods : Sequencing of the whole mtDNA, assessment of the mutation load in muscle and accessible nonmuscle tissues, and single fiber polymerase chain reaction. Results : Muscle mitochondrial DNA (mtDNA) sequencing revealed a novel heteroplasmic mutation (m.4403G 〉 A) in the gene ( MTTM ) that encodes tRNA Met . The mutation was not present in accessible nonmuscle tissues from the patient or 2 asymptomatic sisters. Conclusions : The clinical features and muscle morphology in this patient are very similar to those described in a previous patient with a different mutation, also in MTTM , which suggests that mutations in this gene confer a distinctive “dystrophic” quality. This may be a diagnostic clue in patients with isolated mitochondrial myopathy. Muscle Nerve 50:292–295, 2014
Type of Medium:
Online Resource
ISSN:
0148-639X
,
1097-4598
Language:
English
Publisher:
Wiley
Publication Date:
2014
detail.hit.zdb_id:
1476641-3
SSG:
12
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