Congenital generalized lipodystrophy type 4 with muscular dystrophy: Clinical and pathological manifestations in early childhood

Neuromuscular Disorders

Volumn 23, Issue 5, 2013, Pages 441-444

  Murakami, Nobuyuki ^a,b   Hayashi, Yukiko K ^b,c   Oto, Yuji ^a   Shiraishi, Masahisa ^a   Itabashi, Hisashi ^a   Kudo, Kyoko ^d   Nishino, Ichizo ^b,c   Nonaka, Ikuya ^b   Nagai, Toshiro ^a  

^a DOKKYO MEDICAL UNIVERSITY   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^c Translational Medical Center   (Japan)

^d Saitama Municipal Hospital   (Japan)

Author keywords

Generalized lipodystrophy; Insulin resistance; Muscle mounding; Muscular dystrophy; PTRF

Indexed keywords

ADIPONECTIN; CAVEOLIN 3; CHOLESTEROL; CREATINE KINASE; GLUCOSE; HEMOGLOBIN A1C; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; INSULIN; LEPTIN; LEVOTHYROXINE SODIUM; LIOTHYRONINE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; PLASMINOGEN ACTIVATOR INHIBITOR 1; THYROTROPIN; TRIACYLGLYCEROL;

ABDOMINAL DISTENSION; ARTICLE; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CHILD; CLINICAL EVALUATION; CONGENITAL GENERALIZED LIPODYSTROPHY; CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 4; DISEASE SEVERITY; GENE; GENE MUTATION; HEAD CIRCUMFERENCE; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPOTHYROIDISM; IMMUNOHISTOCHEMISTRY; INSULIN RESISTANCE; MALE; MUSCLE BIOPSY; MUSCLE HYPERTROPHY; MUSCULAR DYSTROPHY; ONSET AGE; POLYMERASE I AND TRANSCRIPT RELEASE FACTOR GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SARCOLEMMA; WALKING;

CAVEOLIN 3; CHILD, PRESCHOOL; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INSULIN RESISTANCE; LIPODYSTROPHY, CONGENITAL GENERALIZED; MALE; MUSCULAR DYSTROPHIES; MUTATION; SARCOLEMMA;

EID: 84876093137     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.02.005     Document Type: Article

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