Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene

scientific article

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1136/JNNP-2013-306754
P932PMC publication ID4173876
P698PubMed publication ID24828896
P5875ResearchGate publication ID262341240

P50authorMichel FardeauQ62559781
Johann BohmQ43078126
Ting XieQ56811501
P2093author name stringBin Wu
Fengping Xu
Jocelyn Laporte
Norma B Romero
Nicole Monnier
Edoardo Malfatti
Stéphane Mathis
Jean-Philippe Neau
Ursula Schaeffer
Samy Boucebci
P2860cites workWhole body muscle MRI protocol: Pattern recognition in early onset NM disordersQ63531156
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathiesQ33918958
An integrated diagnosis strategy for congenital myopathies.Q34797333
Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathyQ36275311
Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus.Q36427111
Myosinopathies: pathology and mechanismsQ38037315
MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathyQ43858895
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutationQ46166215
Scoliosis surgery in a patient with "de novo" myosin storage myopathy.Q53216037
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathyQ55670479
New phenotype and pathology features in MYH7-related distal myopathyQ57184187
Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvementQ61794256
P433issue10
P407language of work or nameEnglishQ1860
P921main subjectheterozygosityQ124059385
P1104number of pages4
P304page(s)1149-1152
P577publication date2014-05-14
P1433published inJournal of Neurology, Neurosurgery and PsychiatryQ1599804
P1476titleAutosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene
P478volume85

Reverse relations

cites work (P2860)
Q60920262'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies
Q35966996Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report
Q50888603Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort.
Q38395355The neuromuscular differential diagnosis of joint hypermobility
Q38471353The sarcomeric M-region: a molecular command center for diverse cellular processes

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