Format

Send to

Choose Destination
Orphanet J Rare Dis. 2016 Jul 7;11(1):91. doi: 10.1186/s13023-016-0476-1.

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

Author information

1
IRCCS Stella Maris, Molecular Medicine and Neuromuscular Disorders, Via dei Giacinti 2, 56128, Calambrone, Pisa, Italy. chi.fiorillo@gmail.com.
2
Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternad and Child Health, University of Genova, University of Genoa, Genoa, Italy. chi.fiorillo@gmail.com.
3
IRCCS Stella Maris, Molecular Medicine and Neuromuscular Disorders, Via dei Giacinti 2, 56128, Calambrone, Pisa, Italy.
4
Telethon Institute of Genetics and Medicine, Naples, Italy.
5
Unit of Pediatric Neurology and Muscular Disorders, Istituto G.Gaslini, Genoa, Italy.
6
Department of Neuroscience, Center of Myology and Neurodegenerative Disorders, Istituto Giannina Gaslini, Genoa, Italy.
7
Department of Neurosciences and Reproductive and Odontostomatologic Sciences, University Federico II, Naples, Italy.
8
Department of Neurosciences "Rita Levi Montalcini", University of Turin, Turin, Italy.
9
Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
10
Don Carlo Gnocchi ONLUS Foundation, Rome, Italy.
11
Department of Paediatric Neurology, Catholic University, Rome, Italy.
12
Department of Neurosciences, University of Padua, Padua, Italy.
13
Department of Clinical and Experimental Medicine and Nemo Sud Clinical Centre, University of Messina, Messina, Italy.
14
Neuromuscular Diseases and Neuroimmunology Unit, IRCCS Foundation C Besta Neurological Institute, Milan, Italy.
15
Center for Neuromuscular and Neurological Rare Diseases, S. Camillo-Forlanini Hospital, Rome, Italy.
16
Department of Systems Medicine (Neurology), University of Tor Vergata, Rome, Italy.
17
Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternad and Child Health, University of Genova, University of Genoa, Genoa, Italy.

Abstract

BACKGROUND:

Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation. Mutations in the head and neck domains are a well-established cause of hypertrophic cardiomyopathy whereas mutation in the distal regions have been associated with a range of skeletal myopathies with or without cardiac involvement, including Laing distal myopathy and Myosin storage myopathy. Recently the spectrum of clinical phenotypes associated with mutations in MYH7 has increased, blurring this scheme and adding further phenotypes to the list. A broader disease spectrum could lead to misdiagnosis of different congenital myopathies, neurogenic atrophy and other neuromuscular conditions.

RESULTS:

As a result of a multicenter Italian study we collected clinical, histopathological and imaging data from a population of 21 cases from 15 families, carrying reported or novel mutations in MYH7. Patients displayed a variable phenotype including atypical pictures, as dropped head and bent spine, which cannot be classified in previously described groups. Half of the patients showed congenital or early infantile weakness with predominant distal weakness. Conversely, patients with later onset present prevalent proximal weakness. Seven patients were also affected by cardiomyopathy mostly in the form of non-compacted left ventricle. Muscle biopsy was consistent with minicores myopathy in numerous cases. Muscle MRI was meaningful in delineating a shared pattern of selective involvement of tibialis anterior muscles, with relative sparing of quadriceps.

CONCLUSION:

This work adds to the genotype-phenotype correlation of MYH7-relatedmyopathies confirming the complexity of the disorder.

KEYWORDS:

Distal myopathy; Muscle MRI; Muscle biopsy; Myosin heavy chain; Whole exome sequencing

PMID:
27387980
PMCID:
PMC4936326
DOI:
10.1186/s13023-016-0476-1
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for BioMed Central Icon for PubMed Central
Loading ...
Support Center