Hereditary Genetics: Current Research
Open Access
ISSN: 2161-1041
+32 466902141
ISSN: 2161-1041
+32 466902141
Kazakov V
L. Tolstoy Str. 6/8, 197022 St. Petersburg
Serbia
Research Article
The Autosomal Dominant Facioscapuloperoneal Muscular Dystrophy with 4q35 Chromosomal Deletion in Two Russian Families
Author(s): Kazakov V, Rudenko D, Kolynin V and Pozdnyakov AKazakov V, Rudenko D, Kolynin V and Pozdnyakov A
We give the description of the pattern of muscle affections in two autosomal dominant 4q35-linked facioscapuloperoneal muscular dystrophy (FSPMD) families in which the patients were re-examined by V.K. in 24 - 28 and 35 - 37 years after their first examination. The disease started with initial involvement of facial and shoulder girdle muscles and in some time later of the peroneal group (anterior tibial) of muscles became involved. However, in two probands the dystrophic process gradually extended to the thighs (posterior group of muscles, namely), pelvic girdle (gluteus maximus muscles, namely) and the upper arm (biceps brachii muscles were slightly affected) and in three their relatives with clinical facioscapuloperoneal (FSP) phenotype the severe involvement of some posterior thigh muscles during MRI study was revealed. In this connection, the term “facioscapulolimb muscular .. Read More»
DOI:
10.4172/2161-1041.S1-007