The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene

Neuromuscular Disorders

Volumn 13, Issue 1, 2003, Pages 60-67

  Chaouch, M ^a   Allal, Y ^b   De Sandre Giovannoli, A ^c   Vallat, J M ^d   Amer el Khedoud, A ^a   Kassouri, N ^a   Chaouch, A ^b   Sindou, P ^d   Hammadouche, T ^e   Tazir, M ^f   Levy N ^c,d,e,f,g   Grid, D ^h  

^a Centre universitaire   (Algeria)

^b CHU Ben Aknoun   (Algeria)

^c INSERM   (France)

^d DUPUYTREN UNIVERSITY HOSPITAL   (France)

^e Institut Pasteur d'Algerie   (Algeria)

^f CHU Mustapha   (Algeria)

^g TIMONE HOSPITAL   (France)

^h GÉNÉTHON   (France)

Author keywords

Autosomal recessive Charcot Marie Tooth; Lamin A C; Nucleopathy

Indexed keywords

LAMIN A; LAMIN C;

ADOLESCENT; ADULT; ALGERIA; ARM; ARTICLE; ATRIOVENTRICULAR CONDUCTION; AUTOSOMAL RECESSIVE INHERITANCE; CELL NUCLEUS MEMBRANE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENETIC CODE; HEART DILATATION; HEART MUSCLE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; LIPODYSTROPHY; MALE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SKELETAL MUSCLE;

ALGERIA; AXONS; CHARCOT-MARIE-TOOTH DISEASE; CHROMOSOMES, HUMAN, PAIR 1; DNA MUTATIONAL ANALYSIS; ELECTROPHYSIOLOGY; FAMILY HEALTH; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; LAMIN TYPE A; MUTATION; MUTATION, MISSENSE; NUCLEAR ENVELOPE; PEDIGREE; PERIPHERAL NERVES; PHENOTYPE;

EID: 0037211466     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(02)00196-7     Document Type: Article

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