Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability

American Journal of Medical Genetics, Part A

Volumn 146, Issue 18, 2008, Pages 2318-2326

  Simha, Vinaya ^a   Agarwal, Anil K ^a   Aronin, Patricia A ^b   Iannaccone, Susan T ^a   Garg, Abhimanyu ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b Central Texas Neurosurgery for Children   (United States)

Author keywords

Adipose tissue; Cervical spine instability; Congenital generalized lipodystrophy; Congenital myopathy; Insulin resistance

Indexed keywords

CREATINE KINASE; DNA; INSULIN; 1 ACYLGLYCEROPHOSPHATE ACYLTRANSFERASE; BSCL2 PROTEIN, HUMAN; CAV1 PROTEIN, HUMAN; CAVEOLIN 1; GUANINE NUCLEOTIDE BINDING PROTEIN GAMMA SUBUNIT;

ACANTHOSIS NIGRICANS; ACROMEGALOID HABITUS; ACROMEGALY; AGPAT2 GENE; ARTICLE; ATLANTOAXIAL DISLOCATION; BIRTH; BODY FAT; BONE MARROW; BSCL2 GENE; CASE REPORT; CAV1 GENE; CERVICAL SPINE; CHILD; CHILDHOOD; CLINICAL FEATURE; CONGENITAL GENERALIZED LIPODYSTROPHY; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DNA SEQUENCE; DYSLIPIDEMIA; ELECTROPHYSIOLOGY; FEMALE; GENE; GENETICS; HEPATOSPLENOMEGALY; HISPANIC; HORMONE DEFICIENCY; HUMAN; HUMAN TISSUE; HYPOLEPTINEMIA; INFANCY; INSULIN RESISTANCE; INTERVENTION STUDY; INTRAABDOMINAL FAT; MALE; MUSCLE BIOPSY; MUSCLE WEAKNESS; PEDIGREE; PRIORITY JOURNAL; SIBLING; SPINE INSTABILITY; SUBCUTANEOUS FAT; SURGICAL TECHNIQUE; UMBILICUS; WHOLE BODY MRI; BODY FAT DISTRIBUTION; BODY MASS; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE; RADIOGRAPHY; SYNDROME;

1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE; BODY FAT DISTRIBUTION; BODY MASS INDEX; CAVEOLIN 1; CERVICAL VERTEBRAE; CHILD; FEMALE; GTP-BINDING PROTEIN GAMMA SUBUNITS; HUMANS; LIPODYSTROPHY, CONGENITAL GENERALIZED; MALE; MUSCLE WEAKNESS; PEDIGREE; PHENOTYPE; SUBCUTANEOUS FAT; SYNDROME;

EID: 51449114051     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32457     Document Type: Article

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