Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)

Author:

Mercuri Eugenio,Talim Beril,Moghadaszadeh Behzad,Petit Nathalie,Brockington Martin,Counsell Serena,Guicheney Pascale,Muntoni Francesco,Merlini Luciano

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference13 articles.

1. 50th ENMC International workshop: congenital muscular dystrophy, 28 February 1997 to 2 March 1997, Naarden, The Netherlands;Dubowitz;Neuromuscul Disord,1997

2. Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine on chromosome 1p35-36;Moghadaszadeh;Am J Hum Genet,1998

3. Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome;Moghadaszadeh;Neuromuscul Disord,1999

4. Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study;Flanigan;Ann Neurol,2000

5. 41th ENMC International workshop on congenital muscular dystrophy, 8–10 March 1996, Naarden, The Netherlands;Dubowitz;Neuromuscul Disord,1996

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