The laminopathies: A clinical review

Clinical Genetics

Volumn 70, Issue 4, 2006, Pages 261-274

  Rankin, Julia ^a   Ellard, S ^a,b  

^a ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

^b PENINSULA MEDICAL SCHOOL   (United Kingdom)

Author keywords

Emery dreifuss; Lamin A C; Laminopathy; LMNA; Progeria

Indexed keywords

LAMIN A; LAMIN C;

ALTERNATIVE RNA SPLICING; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; CONGESTIVE CARDIOMYOPATHY; DISEASE ASSOCIATION; EMERY DREIFUSS MUSCULAR DYSTROPHY; EXON; GENE IDENTIFICATION; GENE MUTATION; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; LIPODYSTROPHY; MYOPATHY; NEUROPATHY; PATHOGENESIS; PHENOTYPE; PREMATURE AGING; PRIORITY JOURNAL; PROGERIA; PROTEIN DEFECT; REVIEW; SYSTEMATIC REVIEW;

ABNORMALITIES, MULTIPLE; ACRO-OSTEOLYSIS; ALTERNATIVE SPLICING; CARDIOMYOPATHY, DILATED; CHARCOT-MARIE-TOOTH DISEASE; GENOTYPE; HUMANS; LAMIN TYPE A; LIPODYSTROPHY; MANDIBLE; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MUTATION; NUCLEAR ENVELOPE; PHENOTYPE; PROGERIA; SKIN ABNORMALITIES;

EID: 33748296316     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00677.x     Document Type: Review

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