P-6 Unusual concurrence of Facio-scapulo-humeral dystrophy and Williams Syndrome in a young boy
نویسندگان
چکیده
P-5 Search for mutations in the RYR1 gene in Italian patients with congenital myopathy D. Cassandrini, R. Trovato, M. Pane, A. D’Amico, G. Comi, R. Battini, C. Fiorillo, F.M. Santorelli, C. Minetti, C. Bruno; and the Italian Network for Congenital Myopathies IRCCS “Stella Maris”, Pisa, Italy; 1 Policlinico Gemelli, Rome, Italy; 2 IRCCS “Bambin Gesù”, Roma, Italy; 3 Policlinico Maggiore, Milano, Italy; 4 IRCCS “G. Gaslini”, Genova, Italy
منابع مشابه
Advances and Perspectives in Muscular Dystrophies
The muscular dystrophies are inherited muscle disorders characterized by weakness and progressive muscle wasting. They can be subdivided in different types, including congenital forms in accordance to distribution of weakness: Duchenne, Becker, Emery-Dreyfuss, limbgirdle, distal, facio-scapulo-humeral, oculofaringeal dystrophy. In this review we will deal with the most recent advances in dystro...
متن کاملIntermittent Pre-Excitation-Syndrome in Facio-Scapulo-Humeral Muscular Dystrophy
Pre-excitation-syndrome has not been reported as a phenotypic feature of facio-scapulo-humeral muscular dystrophy (FSH-MD). In a 39-year-old male with FSH-MD due to a reduced tandem repeat size in the D4Z4-locus on chromosome 4q35, cardiac involvement, manifesting as an incomplete right bundle-branch-block, tall T-waves in V 3-5, ST-elevation in V 2-4, and mild thickening of the left ventricula...
متن کاملFacio-scapulo-humeral dystrophy (FSHD) – the latest update
StreSzczenie Dystrofia twarzowo-łopatkowo-ramieniowa (FSHD) to trzecia co do częstości występowania dystrofia mięśniowa, dziedziczona autosomalnie dominująco. Pierwsze objawy zazwyczaj manifestują się w drugiej dekadzie życia, a bardzo wczesny początek (u dzieci przed 10. rokiem życia) wiąże się z ciężkim przebiegiem choroby, szybszym postępem niesprawności oraz większym ryzykiem powikłań. Prac...
متن کاملFamilial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy.
Two sisters and a first cousin presented with rigid spine and facio-scapulo-peroneal muscle atrophy. The patients belonged to a family with two first-cousin marriages. Electromyography, muscle and nerve biopsy showed neurogenic muscle atrophy without peripheral nerve involvement. Follow up did not show progression of the disease. This is the first observation of an association of neurogenic fac...
متن کاملThe D4Z4 Macrosatellite Repeat Acts as a CTCF and A-Type Lamins-Dependent Insulator in Facio-Scapulo-Humeral Dystrophy
Both genetic and epigenetic alterations contribute to Facio-Scapulo-Humeral Dystrophy (FSHD), which is linked to the shortening of the array of D4Z4 repeats at the 4q35 locus. The consequence of this rearrangement remains enigmatic, but deletion of this 3.3-kb macrosatellite element might affect the expression of the FSHD-associated gene(s) through position effect mechanisms. We investigated th...
متن کامل