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J Neurol Sci. 2005 Dec 15;239(1):21-4. Epub 2005 Sep 15.

A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy.

Author information

1
Fondazione IRCCS Ospedale Maggiore-Policlinico Mangiagalli e Regina Elena, Dipartimento di Neuroscienze, Centro Dino Ferrari, Via Francesco Sforza, 35-20122 Milano, Italy. maurizio.moggio@unimi.it

Abstract

A 45-year-old male patient had an episode of acute renal failure with myoglobinuria, myalgias, weakness, and markedly increased serum CK levels. Similar episodes had occurred in the past. Carnitine palmitoyl-transferase II (CPT II) deficiency was documented both biochemically and genetically. Interestingly, muscle biopsy also showed some ragged red fibers (RRF) and complete mitochondrial DNA (mtDNA) sequence disclosed a homoplasmic T3394C point mutation. This mutation is described in Leber's hereditary optic neuropathy (LHON) or in patients with diabetes mellitus.

PMID:
16168441
DOI:
10.1016/j.jns.2005.07.008
[Indexed for MEDLINE]

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