Affiliations: Department of Neurology, Grant Medical College and Sir
JJ Group of Hospitals, Byculla, Mumbai, India | Department of Neuropathology and Applied Biology,
Medical Research Center, Bombay hospital, New Marine lines, Mumbai, India
Note: [] Correspondence: Dr. Satish V. Khadilkar, Room no 110, First
floor, MRC Building, Bombay Hospital, New Marine lines, Mumbai, India. E-mail:
[email protected]
Abstract: In a cohort of 40 consecutive patients with dystrophinopathy, 29
(72.5%) showed dystrophin gene deletions. Five (17.2%) of these deletions had
two non-contiguous deletions involving proximal and central hotspot regions
i.e. double deletions. Patients with double deletions tended to have superior
functional grading than those with single or no deletion. Double deletions
within the dystrophin gene form an interesting feature of this cohort of Indian
patients. Sporadic cases amounted to 75% (30/40). Deletions in the sporadic
Duchenne muscular dystrophy patients were localized to the central hotspot
region. The proximal hotspot mutations were seen exclusively in the families
with affected siblings. Clinical course of affected siblings was largely
concordant, except for one family. One family with intrafamilial phenotypic
variability is reported. The three male cousins in this family had phenotypes
varying from Duchenne muscular dystrophy, Becker's muscular dystrophy to cramp
myalgia.
