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.
| Original language | English |
|---|---|
| Article number | 91 |
| Journal | Orphanet Journal of Rare Diseases |
| Volume | 11 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jul 7 2016 |
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Keywords
- Distal myopathy
- Muscle biopsy
- Muscle MRI
- Myosin heavy chain
- Whole exome sequencing
ASJC Scopus subject areas
- Medicine(all)
- Genetics(clinical)
- Pharmacology (medical)
Cite this
MYH7-related myopathies : Clinical, histopathological and imaging findings in a cohort of Italian patients. / Fiorillo, Chiara; Astrea, Guja; Savarese, Marco; Cassandrini, Denise Alessandra; Brisca, Giacomo; Trucco, Federica; Pedemonte, Marina; Trovato, Rosanna; Ruggiero, Lucia; Vercelli, Liliana; D'Amico, Adele; Tasca, Giorgio; Pane, M.; Fanin, Marina; Bello, L.; Broda, Paolo; Musumeci, Olimpia; Rodolico, C.; Messina, S.; Vita, Gian Luca; Sframeli, Maria; Gibertini, S.; Morandi, Lucia; Mora, Marina; Maggi, Lorenzo; Petrucci, Antonio; Massa, Roberto; Grandis, M.; Toscano, Antonio; Pegoraro, E.; Mercuri, E.; Bertini, Enrico Silvio; Mongini, T.; Santoro, Lucio; Nigro, Vincenzo; Minetti, Carlo; Santorelli, Filippo Maria; Bruno, Claudio.
In: Orphanet Journal of Rare Diseases, Vol. 11, No. 1, 91, 07.07.2016.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - MYH7-related myopathies
T2 - Clinical, histopathological and imaging findings in a cohort of Italian patients
AU - Fiorillo, Chiara
AU - Astrea, Guja
AU - Savarese, Marco
AU - Cassandrini, Denise Alessandra
AU - Brisca, Giacomo
AU - Trucco, Federica
AU - Pedemonte, Marina
AU - Trovato, Rosanna
AU - Ruggiero, Lucia
AU - Vercelli, Liliana
AU - D'Amico, Adele
AU - Tasca, Giorgio
AU - Pane, M.
AU - Fanin, Marina
AU - Bello, L.
AU - Broda, Paolo
AU - Musumeci, Olimpia
AU - Rodolico, C.
AU - Messina, S.
AU - Vita, Gian Luca
AU - Sframeli, Maria
AU - Gibertini, S.
AU - Morandi, Lucia
AU - Mora, Marina
AU - Maggi, Lorenzo
AU - Petrucci, Antonio
AU - Massa, Roberto
AU - Grandis, M.
AU - Toscano, Antonio
AU - Pegoraro, E.
AU - Mercuri, E.
AU - Bertini, Enrico Silvio
AU - Mongini, T.
AU - Santoro, Lucio
AU - Nigro, Vincenzo
AU - Minetti, Carlo
AU - Santorelli, Filippo Maria
AU - Bruno, Claudio
PY - 2016/7/7
Y1 - 2016/7/7
N2 - 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.
AB - 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.
KW - Distal myopathy
KW - Muscle biopsy
KW - Muscle MRI
KW - Myosin heavy chain
KW - Whole exome sequencing
UR - http://www.scopus.com/inward/record.url?scp=84977269138&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84977269138&partnerID=8YFLogxK
U2 - 10.1186/s13023-016-0476-1
DO - 10.1186/s13023-016-0476-1
M3 - Article
VL - 11
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
SN - 1750-1172
IS - 1
M1 - 91
ER -