|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0006938,
umls-concept:C0011155,
umls-concept:C0012929,
umls-concept:C0026882,
umls-concept:C0185283,
umls-concept:C1138431,
umls-concept:C1151995,
umls-concept:C1152458,
umls-concept:C1514805,
umls-concept:C1533148,
umls-concept:C1545852
|
|
pubmed:issue |
1
|
|
pubmed:dateCreated |
2005-11-18
|
|
pubmed:abstractText |
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.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Dec
|
|
pubmed:issn |
0022-510X
|
|
pubmed:author |
pubmed-author:BordoniAndreinaA,
pubmed-author:BresolinNereoN,
pubmed-author:CiscatoPatriziaP,
pubmed-author:ComiGiacomo PGP,
pubmed-author:CrimiMarcoM,
pubmed-author:D'AddaElisabettaE,
pubmed-author:Di FonzoAlessioA,
pubmed-author:FagiolariGigliolaG,
pubmed-author:JannStefanoS,
pubmed-author:LampertiCostanzaC,
pubmed-author:MoggioMaurizioM,
pubmed-author:PrelleAlessandroA,
pubmed-author:SciaccoMonicaM
|
|
pubmed:issnType |
Print
|
|
pubmed:day |
15
|
|
pubmed:volume |
239
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
21-4
|
|
pubmed:dateRevised |
2010-11-18
|
|
pubmed:meshHeading |
pubmed-meshheading:16168441-Acute Kidney Injury,
pubmed-meshheading:16168441-Base Sequence,
pubmed-meshheading:16168441-Biopsy,
pubmed-meshheading:16168441-Carnitine O-Palmitoyltransferase,
pubmed-meshheading:16168441-Creatine Kinase,
pubmed-meshheading:16168441-DNA, Mitochondrial,
pubmed-meshheading:16168441-DNA Mutational Analysis,
pubmed-meshheading:16168441-Humans,
pubmed-meshheading:16168441-Male,
pubmed-meshheading:16168441-Middle Aged,
pubmed-meshheading:16168441-Mitochondrial Diseases,
pubmed-meshheading:16168441-Muscle, Skeletal,
pubmed-meshheading:16168441-Muscle Fibers, Skeletal,
pubmed-meshheading:16168441-Muscle Weakness,
pubmed-meshheading:16168441-Muscular Diseases,
pubmed-meshheading:16168441-Myoglobinuria,
pubmed-meshheading:16168441-Point Mutation,
pubmed-meshheading:16168441-Syndrome
|
|
pubmed:year |
2005
|
|
pubmed:articleTitle |
A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy.
|
|
pubmed:affiliation |
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
|
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
