New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

Author： Louhichi Nacim   Triki Chahnez   Quijano-Roy Susana   Richard Pascale   Makri Samira   Méziou Mériem   Estournet Brigitte   Mrad Slah   Romero Norma   Ayadi Hammadi   Guicheney Pascale   Fakhfakh Faiza  

Publisher： Springer Publishing Company

ISSN： 1364-6745

Source： Neurogenetics, Vol.5, Iss.1, 2004-02, pp. : 27-34

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Related content

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy

By Hicks Debbie  

Brain, Vol. 134, Iss. 1, 2011-01 ,pp. : 171-182

Oxford University Press

Access to resources Recommend Favorite

A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze family

By Delague Valérie   Bareil Corinne   Bouvagnet Patrice   Salem Nabiha   Chouery Eliane   Loiselet Jacques   Mégarbané André   Claustres Mireille  

Neurogenetics, Vol. 4, Iss. 1, 2002-03 ,pp. : 23-27

Springer Publishing Company

Access to resources Recommend Favorite

MRI findings in congenital muscular dystrophies associated with brain abnormalities

By Vajsar Jiri  

Future Neurology, Vol. 1, Iss. 6, 2006-11 ,pp. : 765-773

Future Medicine

Access to resources Recommend Favorite

A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of -dystroglycan

By Dincer P.   Balci B.   Yuva Y.   Talim B.   Brockington M.   Dincel D.   Torelli S.   Brown S.   Kale G.   Haliloglu G.   Gerceker F.O.   Atalay R.C.   Yakicier C.   Longman C.   Muntoni F.   Topaloglu H.  

Neuromuscular Disorders, Vol. 13, Iss. 10, 2003-12 ,pp. : 771-778

Elsevier

Access to resources Recommend Favorite

The A431E mutation in PSEN1 causing Familial Alzheimer’s Disease originating in Jalisco State, Mexico: an additional fifteen families

By Murrell Jill   Ghetti Bernardino   Cochran Elizabeth   Macias-Islas Miguel   Medina Luis   Varpetian Arousiak   Cummings Jeffrey   Mendez Mario   Kawas Claudia   Chui Helena   Ringman John  

Neurogenetics, Vol. 7, Iss. 4, 2006-11 ,pp. : 277-279

Springer Publishing Company

Access to resources Recommend Favorite