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.
A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy / M. Sciacco, A. Prelle, G. Fagiolari, A. Bordoni, M.Crimi, A. Di Fonzo, P. Ciscato, C. Lamperti, E. D'Adda, S. Jann, N. Bresolin, G.P. Comi, M. Moggio. - In: JOURNAL OF THE NEUROLOGICAL SCIENCES. - ISSN 0022-510X. - 239:1(2005), pp. 21-24.
|Titolo:||A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy|
COMI, GIACOMO PIETRO (Penultimo)
|Parole Chiave:||CPT deficiency; Mitochondrial disorder; Myoglobinuria; RRFs|
|Settore Scientifico Disciplinare:||Settore MED/26 - Neurologia|
|Data di pubblicazione:||2005|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1016/j.jns.2005.07.008|
|Appare nelle tipologie:||01 - Articolo su periodico|