Myofibrillar myopathies
D Selcen, AG Engel - Handbook of clinical neurology, 2011 - Elsevier
Myofibrillar myopathies (MFMs) represent a group of muscular dystrophies with a similar
morphological phenotype. The diagnosis is established by muscle biopsy. The MFMs are …
morphological phenotype. The diagnosis is established by muscle biopsy. The MFMs are …
Desmin myopathy
LG Goldfarb, P Vicart, HH Goebel, MC Dalakas - Brain, 2004 - academic.oup.com
Desmin myopathy is a recently identified disease associated with mutations in desmin or αB‐
crystallin. Typically, the illness presents with lower limb muscle weakness slowly spreading …
crystallin. Typically, the illness presents with lower limb muscle weakness slowly spreading …
Mutation in BAG3 causes severe dominant childhood muscular dystrophy
D Selcen, F Muntoni, BK Burton, E Pegoraro… - Annals of …, 2009 - Wiley Online Library
Abstract Objective Myofibrillar myopathies (MFMs) are morphologically distinct but
genetically heterogeneous muscular dystrophies in which disintegration of Z disks and then …
genetically heterogeneous muscular dystrophies in which disintegration of Z disks and then …
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
LG Goldfarb, KY Park, L Cervenáková, S Gorokhova… - Nature …, 1998 - nature.com
Abstract Desmin-related myopathy (OMIM 601419) is a familial disorder characterized by
skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias and …
skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias and …
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene
MC Dalakas, KY Park, C Semino-Mora… - … England Journal of …, 2000 - Mass Medical Soc
Background Myofibrillar myopathies are a heterogeneous group of inherited or sporadic
skeletal myopathies associated with cardiomyopathy. Among the myofibrillar proteins that …
skeletal myopathies associated with cardiomyopathy. Among the myofibrillar proteins that …
Evidence and role of phlebitis and lipid infiltration in the onset and pathogenesis of Wooden Breast Disease in modern broiler chickens
ABSTRACT Wooden Breast Disease (WBD), a myopathy that frequently affects modern
broiler chickens, is a disorder that has been associated with significant economic losses in …
broiler chickens, is a disorder that has been associated with significant economic losses in …
Mutations in myotilin cause myofibrillar myopathy
D Selcen, AG Engel - Neurology, 2004 - AAN Enterprises
Background and Objective: The term myofibrillar myopathy (MFM) is a noncommittal term for
a pathologic pattern of myofibrillar dissolution associated with accumulation of myofibrillar …
a pathologic pattern of myofibrillar dissolution associated with accumulation of myofibrillar …
Myofibrillar myopathy caused by novel dominant negative αB‐crystallin mutations
D Selcen, AG Engel - Annals of Neurology: Official Journal of …, 2003 - Wiley Online Library
We here report the second and third mutations in αB‐crystallin causing myofibrillar
myopathy. Two patients had adult‐onset muscle weakness. Patient 1 had cervical, limb …
myopathy. Two patients had adult‐onset muscle weakness. Patient 1 had cervical, limb …
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients
The term myofibrillar myopathy (MFM) was proposed in 1996 as a non‐committal term for a
pathological pattern of myofibrillar dissolution associated with accumulation of myofibrillar …
pathological pattern of myofibrillar dissolution associated with accumulation of myofibrillar …
Distinct muscle imaging patterns in myofibrillar myopathies
D Fischer, RA Kley, K Strach, C Meyer, T Sommer… - Neurology, 2008 - AAN Enterprises
Objective: To compare muscle imaging findings in different subtypes of myofibrillar
myopathies (MFM) in order to identify characteristic patterns of muscle alterations that may …
myopathies (MFM) in order to identify characteristic patterns of muscle alterations that may …