Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

BMC Medical Genetics

Volumn 14, Issue 1, 2013, Pages

  Ardissone, Anna ^a   Bragato, Cinzia ^a   Caffi, Lorella ^b   Blasevich, Flavia ^a   Maestrini, Sabrina ^c   Bianchi, Maria L ^c   Morandi, Lucia ^a   Moroni, Isabella ^a   Mora, Marina ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b OSPEDALI RIUNITI   (Italy)

^c ISTITUTO AUXOLOGICO ITALIANO   (Italy)

Author keywords

Cavin 1; Congenital generalized lipodystrophy type 4; HyperCKemia; Muscle mounding; PTRF CAVIN

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CAVEOLIN 3; CREATINE KINASE; LACTATE DEHYDROGENASE; POLYMERASE I AND TRANSCRIPT RELEASE FACTOR; PROTEIN; UNCLASSIFIED DRUG;

ACANTHOSIS NIGRICANS; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BASE PAIRING; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL GENERALIZED LIPODYSTROPHY; CREATINE KINASE BLOOD LEVEL; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; LACTATE DEHYDROGENASE BLOOD LEVEL; MALE; MUSCLE BIOPSY; MUSCLE HYPERTROPHY; MYALGIA; MYOPATHY; PRESCHOOL CHILD; SUBCUTANEOUS FAT;

CAVEOLIN 1; CAVEOLIN 3; CHILD, PRESCHOOL; GENE DELETION; HOMOZYGOTE; HUMANS; LIPODYSTROPHY, CONGENITAL GENERALIZED; MALE; MUSCLE CONTRACTION; MUSCULAR DISEASES; MUTATION; RNA-BINDING PROTEINS; SUBCUTANEOUS FAT; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84883619662     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-14-89     Document Type: Article

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