Limb Girdle Muscular Dystrophy, Autosomal Dominant Type 1C

2012 ◽  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Dominant ◽  
Limb Girdle Muscular Dystrophy ◽  
Dominant Type ◽  
Autosomal Dominant Type

Limb Girdle Muscular Dystrophy, Autosomal Dominant Type 1C

2009 ◽  
pp. 1179-1180
Author(s):  
Alexander K. C. Leung ◽  
William Lane M. Robson ◽  
Carsten Büning ◽  
Johann Ockenga ◽  
Janine Büttner ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Dominant ◽  
Limb Girdle Muscular Dystrophy ◽  
Dominant Type ◽  
Autosomal Dominant Type

Limb Girdle Muscular Dystrophy, Autosomal Dominant Type 1A (Myotilin)

2009 ◽  
pp. 1176-1178
Author(s):  
Alexander K. C. Leung ◽  
William Lane M. Robson ◽  
Carsten Büning ◽  
Johann Ockenga ◽  
Janine Büttner ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Dominant ◽  
Limb Girdle Muscular Dystrophy ◽  
Dominant Type ◽  
Autosomal Dominant Type

Limb Girdle Muscular Dystrophy, Autosomal Dominant Type 1B

2009 ◽  
pp. 1178-1179
Author(s):  
Alexander K. C. Leung ◽  
William Lane M. Robson ◽  
Carsten Büning ◽  
Johann Ockenga ◽  
Janine Büttner ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Dominant ◽  
Limb Girdle Muscular Dystrophy ◽  
Dominant Type ◽  
Autosomal Dominant Type

An autosomal dominant type of congenital muscular dystrophy

1985 ◽  
Vol 87 (3) ◽  
pp. 232
Author(s):  
Q. Leyten ◽  
F. Gabreëls ◽  
W. Renier ◽  
B. ter Haar ◽  
E. Joosten ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Dominant ◽  
Congenital Muscular Dystrophy ◽  
Dominant Type ◽  
Autosomal Dominant Type

Autosomal dominant type of congenital muscular dystrophy

1997 ◽  
Vol 7 (6-7) ◽  
pp. 432
Author(s):  
F.J.M. Gabreëls ◽  
Q.H. Leyten ◽  
H.J. ter Laak ◽  
W.O. Renier ◽  
B. Ceulemans ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Dominant ◽  
Congenital Muscular Dystrophy ◽  
Dominant Type ◽  
Autosomal Dominant Type

An autosomal dominant type of congenital muscular dystrophy

1986 ◽  
Vol 8 (5) ◽  
pp. 533-537 ◽  
Author(s):  
Quint H Leyten ◽  
Fons JM Gabreëls ◽  
Ed MG Joosten ◽  
Willy O Renier ◽  
Henk J Ter Laak ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Dominant ◽  
Congenital Muscular Dystrophy ◽  
Dominant Type ◽  
Autosomal Dominant Type

Punctate Calcification Group

2018 ◽  
pp. 351-378
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Chondrodysplasia Punctata ◽  
Limb Defects ◽  
Dominant Type ◽  
Radiographic Features ◽  
Keutel Syndrome ◽  
Punctate Calcification ◽  
Autosomal Dominant Type

This chapter discusses punctate calcification group and related disorders and includes discussion on Greenberg dysplasia, chondrodysplasia punctata Conradi-Hünermann type, CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome, chondrodysplasia punctata (rhizomelic type), chondrodysplasia punctata (brachytelephalangic type), chondrodysplasia punctata (autosomal dominant type), chondrodysplasia punctata (tibia-metacarpal type), and Keutel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

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