Evidence for Locus Heterogeneity in the Bethlem Myopathy and Linkage to 2q37

By Speer Marcy C.  

Human Molecular Genetics, Vol. 5, Iss. 7, 1996-01 ,pp. : 1043-1046

Oxford University Press

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A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation

By Sjöberg Gunnar   Saavedra-Matiz Carlos A.  

Human Molecular Genetics, Vol. 8, Iss. 12, 1999-11 ,pp. : 2191-2198

Oxford University Press

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A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy

By Malicdan May Christine V.   Noguchi Satoru   Nonaka Ikuya   Hayashi Yukiko K.   Nishino Ichizo  

Human Molecular Genetics, Vol. 16, Iss. 2, 2007-01 ,pp. : 115-128

Oxford University Press

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Distal Hereditary Motor Neuropathy Type II (Distal HMN II): Mapping of a Locus to Chromosome 12q24

By Timmerman Vincent  

Human Molecular Genetics, Vol. 5, Iss. 7, 1996-01 ,pp. : 1065-1069

Oxford University Press

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Hereditary Inclusion Body Myopathy Maps to Chromosome 9p1-q1

By Mitrani-Rosenbaum Stella  

Human Molecular Genetics, Vol. 5, Iss. 1, 1996-01 ,pp. : 159-163

Oxford University Press

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