Chiara Terracciano
MYH7-RELATED MYOPATHY: AN ITALIAN FAMILY WITH ATYPICAL PHENOTYPE
Autori
- DOMENICA ZAINO (NEUROLOGY UNIT, GUGLIELMO DA SALICETO HOSPITAL, PIACENZA, ITALY – NEUROLOGIA)
- MELISSA BELLINI (PEDIATRIC AND NEONATOLOGY UNIT, GUGLIELMO DA SALICETO HOSPITAL, PIACENZA, ITALY – PEDIATRIA, GENETICA MEDICA)
- PAOLO IMMOVILLI (NEUROLOGY UNIT, GUGLIELMO DA SALICETO HOSPITAL, PIACENZA, ITALY – NEUROLOGIA)
- ROBERTO PARISI (UONPIA, AUSL DI PIACENZA, ITALY – NEUROPSICHIATRIA INFANTILE)
- NICOLA MORELLI (NEURORADIOLOGY UNIT, GUGLIELMO DA SALICETO HOSPITAL, PIACENZA, ITALY – RADIOLOGIA, NEUROLOGIA)
- GIACOMO BIASUCCI (PEDIATRIC AND NEONATOLOGY UNIT, GUGLIELMO DA SALICETO HOSPITAL, PIACENZA, ITALY; DEPARTMENT OF MEDICINE AND SURGERY, UNIVERSITY OF PARMA, PARMA, ITALY – PEDIATRIA)
- CHIARA TERRACCIANO (NEUROLOGY UNIT, GUGLIELMO DA SALICETO HOSPITAL, PIACENZA, ITALY – NEUROLOGIA)
Presentatore
CHIARA TERRACCIANO
Modalità
Poster Session
Abstract
“Myosin heavy chain 7 (MYH7) gene is a sarcomeric gene encoding the myosin heavy chain (myosin-7), located on Chromosome 14q11.2.
Myh7 mutations are associated with cardiomyopathy and skeletal muscle myopathy with a variable phenotype, usually depending on type and location of the mutation.
In a large multicentric study, 15 Italian families with novel and reported Myh7 mutations and different muscular involvement has been identified confirming the clinical complexity of the disorder.
We describe a mother and her son (52 and 13 years old), carrying the Myh7 mutation c.1105C>T p.(Arg369Trp), presenting with an atypical phenotype.
The two patients underwent a comprehensive study including laboratory tests, electrophysiological examination, cardiac ultrasound and MRI, whole-body muscular MRI. Muscle biopsy was performed on the mother and is ongoing.
On clinical examination only the mother presented proximal weakness involving upper and lower limbs, but both patients reported an history of ligament hyperlaxity, joint and muscle pain and clumsy gait.
Electromyography displayed diffuse myopathic discharges in upper and lower limbs with a prevalent involvement of both scapular and pelvic girdle; spontaneous muscular activity was not detectable.
Myopathy with limb-girdle distribution was confirmed by whole body muscular MRI.
Cardiological studies showed in the mother an initial cardiomyopathy with ventricular septal hypokinesia.
The Myh7 mutation harbored by our family has been previously associated to a hypertrophic cardiomyopathy without muscular involvement.
We described an Italian family with a heterozygous Myh7 mutation located in exone 12 of the gene, showing an atypical phenotype with ligamentous hyperlaxity, joint and muscle pain, late-onset proximal myopathy and cardiomyopathy.”