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 …

Hereditary muscular dystrophies and the heart

MCE Hermans, YM Pinto, ISJ Merkies… - Neuromuscular …, 2010 - Elsevier
Cardiac disease is a common clinical manifestation of neuromuscular disorders, particularly
of muscular dystrophies. Heart muscle cells as well as specialized conducting myocardial …

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 …

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 …

Mutations in ZASP define a novel form of muscular dystrophy in humans

D Selcen, AG Engel - Annals of neurology, 2005 - Wiley Online Library
Myofibrillar myopathy (MFM) is a morphologically distinct disorder in which disintegration of
the Z‐disk and then of the myofibrils is followed by abnormal accumulation of multiple …

The role of Z-disc proteins in myopathy and cardiomyopathy

K Wadmore, AJ Azad, K Gehmlich - International Journal of Molecular …, 2021 - mdpi.com
The Z-disc acts as a protein-rich structure to tether thin filament in the contractile units, the
sarcomeres, of striated muscle cells. Proteins found in the Z-disc are integral for maintaining …

The classification, natural history and treatment of the limb girdle muscular dystrophies

AP Murphy, V Straub - Journal of neuromuscular diseases, 2015 - content.iospress.com
Over sixty years ago John Walton and Frederick Nattrass defined limb girdle muscular
dystrophy (LGMD) as a separate entity from the X-linked dystrophinopathies such as …

Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly

P Salmikangas, PFM van der Ven… - Human molecular …, 2003 - academic.oup.com
The assembly and maintenance of the muscle sarcomere requires a complex interplay of
actin-and myosin-associated proteins. Myotilin is a thin filament-associated Z-disc protein …

Limb‐girdle muscular dystrophies–from genetics to molecular pathology

SH Laval, KMD Bushby - Neuropathology and applied …, 2004 - Wiley Online Library
The limb‐girdle muscular dystrophies are a diverse group of muscle‐wasting disorders
characteristically affecting the large muscles of the pelvic and shoulder girdles. Molecular …

Muscular dystrophies

JC Carter, DW Sheehan, A Prochoroff… - Clinics in chest …, 2018 - chestmed.theclinics.com
The muscular dystrophies are a heterogeneous group of disorders defined by dystrophic
pathologic features on muscle biopsy. Clinically, they are characterized by progressive …