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.
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
N B
NB
Romero
M
M
Herasse
N
N
Monnier
J P
JP
Leroy
D
D
Fischer
A
A
Ferreiro
L
L
Viollet
B
B
Eymard
P
P
Laforêt
S
S
Monges
F
F
Lubieniecki
A L
AL
Taratuto
P
P
Guicheney
J
J
Lunardi
M
M
Fardeau
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