Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus.
We analysed the clinical, histochemical, ultrastructural and genetic data of patients affected by central core disease (CCD) studied during the last 20 years. From a total series of 86 CCD-families, we have identified 46 CCD families with RYR1 mutations (16 autosomal dominant, 8 autosomal recessive, 17 sporadic cases and 5 de novo mutations). Out of the other 40 CCD families, the RyR1 gene was entirely excluded in 7 families, by cDNA sequencing or linkage analysis, indicating a genetic heterogeneity of CCD.
Romero
N B
NB
Institut National de la Santé et de la Recherche Médicale U 582, Association Institut de Myologie, IFR 14, Groupe Hospitalier Pitié-Salpêtrière, Université Pierre et Marie Curie, Paris, France. nb.romero@myologie.chups.jussieu.fr
Herasse
M
M
Monnier
N
N
Leroy
J P
JP
Fischer
D
D
Ferreiro
A
A
Viollet
L
L
Eymard
B
B
Laforêt
P
P
Monges
S
S
Lubieniecki
F
F
Taratuto
A L
AL
Guicheney
P
P
Lunardi
J
J
Fardeau
M
M
D006801:Humans; D007150:Immunohistochemistry; D020512:Myopathy, Central Core / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*
D019837:Ryanodine Receptor Calcium Release Channel