Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Muscular dystrophy, limb-girdle, type 2B

OMIM:253601
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system


Mutations

Gene SymbolDYSF
Reference transcriptNM_003494.3
DNA Changec.2858dupT
A.A. Changep.Phe954ValfsX2
Exon/Intronexon 27
Mutation Typeduplication
ReferenceNguyen K, Bassez G, Bernard R, Krahn M, Labelle V, Figarella-Branger D, Pouget J, Hammouda el H, B?roud C, Urtizberea A, Eymard B, Leturcq F, L?vy N.Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
Hum Mutat. 2005 Aug;26(2):165.