Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures.

Helderman-van den Enden, A T J M

Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures. [electronic resource] - Neuromuscular disorders : NMD May 2003 - 317-21 p. digital

Publication Type: Case Reports; Journal Article

0960-8966

10.1016/s0960-8966(02)00285-7 doi


Adult
Contracture--etiology
Dystrophin--genetics
Humans
Immunohistochemistry
Male
Mosaicism
Muscle, Skeletal--pathology
Muscular Dystrophies--complications
Point Mutation
Polymerase Chain Reaction