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Paper Details

Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.
Am J Med Genet A
84
2008
Dunnigan type familial, Emery Dreifuss muscular dystrophy, Hutchinson Gilford progeria syndrome, LMNA gene, LMNA gene mutation, Patient, Patients, R644C, arthrogryposis, atypical progeria, autosomal recessive Charcot Marie Tooth type 2, c.1930C, c.1930C > T, conduction system disease, contractures, dilated cardiomyopathy, focal segmental glomerulosclerosis, hepatic steatosis, insulin, insulin resistance, left ventricular hypertrophy, left ventricular non-compaction, limb girdle muscle, limb girdle muscular dystrophy, limb girdle weakness, lipodystrophy, mandibulo acral dysplasia, motor neuropathy, partial lipodystrophy, patients, proximal weakness, restrictive dermopathy, scoliosis, weakness

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Release 1.2