Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

American Journal of Human Genetics

Volumn 70, Issue 3, 2002, Pages 726-736

  De Sandre Giovannoli, Annachiara ^a   Chaouch, Malika ^c   Kozlov, Serguei ^f   Vallat, Jean Michel ^g   Tazir, Meriem ^d   Kassouri, Nadia ^c   Szepetowski, Pierre ^a   Hammadouche, Tarik ^e   Vandenberghe, Antoon ^h   Stewart, Colin L ^d   Grid, Djamel ⁱ   Lévy, Nicolas ^a,b  

^a INSERM   (France)

^b TIMONE HOSPITAL   (France)

^c Centre Hospitalier Universitaire Ben Aknoun   (Algeria)

^d CHU Mustapha   (Algeria)

^e Institut Pasteur d'Algerie   (Algeria)

^f NATIONAL CANCER INSTITUTE   (United States)

^g DUPUYTREN UNIVERSITY HOSPITAL   (France)

^h Hopital de l'Antiquaille   (France)

ⁱ GÉNÉTHON   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CELL MEMBRANE PROTEIN; GENE PRODUCT; LAMIN A; LAMIN C; PROTEIN LMNA; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 1Q; CONTROLLED STUDY; EMERY DREIFUSS MUSCULAR DYSTROPHY; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HAPLOTYPE; HEART DILATATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; LIPODYSTROPHY; MOUSE; NERVE CONDUCTION; NERVE FIBER DEGENERATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; SCIATIC NERVE;

ANIMALIA;

EID: 0036178210     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/339274     Document Type: Article

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