A novel homozygous LMNA mutation (R471C) is associated with a complex phenotype combining mandibuloacral dysplasia, rigid spine muscular dystrophy, and progeria

Hahn, Andreas; Kress, W.; Grimm, T; Berthold, LD; Neubauer, Bernd A.; Kuchelmeister, K.; Müller, U; Zirn, Birgit

doi:10.1055/s-2008-1079583

Neuropediatrics

2008

DOI: 10.1055/s-2008-1079583

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A novel homozygous LMNA mutation (R471C) is associated with a complex phenotype combining mandibuloacral dysplasia, rigid spine muscular dystrophy, and progeria

Andreas Hahn¹,

W. Kress²,

T Grimm³

et al.

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A novel homozygous LMNA mutation (R471C) is associated with a complex phenotype combining mandibuloacral dysplasia, rigid spine muscular dystrophy, and progeria

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