Late onset hereditary distal myopathy

Markesbery, William R.; Griggs, Robert C.; Leach, Richard P.; Lapham, Lowell W.

doi:10.1212/wnl.24.2.127

Cited by 119 publications

(51 citation statements)

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“…The Ala165Val mutation is within, and the Ala147Thr mutation is immediately before, the ZM motif needed for interaction with α-actinin [54]. Subsequently, the large kinship, described by Markesbery et al in 1974 [6], and 5 other kinships with distal myopathy and MFM pathology were shown to carry the Ala165Val mutation. These 6 kinships and the 3 of the Zaspopathy kinships observed at the Mayo Clinic harboring this mutation may have a common founder [7].…”

Section: Zaspopathy-zaspmentioning

confidence: 99%

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Myofibrillar myopathies

Selcen¹

2010

Current Opinion in Neurology

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SUMMARYMyofibrillar myopathies represent a group of muscular dystrophies with a similar morphologic phenotype. They are characterized by a distinct pathologic pattern of myofibrillar dissolution associated with disintegration of the Z-disk, accumulation of myofibrillar degradation products, and ectopic expression of multiple proteins and sometimes congophilic material. The clinical features of myofibrillar myopathies are more variable. These include progressive muscle weakness, that often involves or begins in distal muscles but limb-girdle or scapuloperoneal distributions can also occur. Cardiomyopathy and peripheral neuropathy are frequent associated features. EMG of the affected muscles reveals myopathic motor unit potentials and abnormal irritability often with myotonic discharges. Rarely, neurogenic motor unit potentials or slow nerve conductions are present. The generic diagnosis of myofibrillar myopathies is based on muscle biopsy findings in frozen sections. To date, all myofibrillar myopathy mutations have been traced to Z-disk associated proteins, namely, desmin, αB-crystallin, myotilin, ZASP, filamin C and Bag3. However, in the majority of the myofibrillar myopathy patients the disease gene awaits discovery.

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Section: Zaspopathy-zaspmentioning

confidence: 99%

“…Also, different forms of MFM have the clinical features of muscular dystrophies and some were first reported as such. For example, myotilinopathy was first classified as LGMD1A by the clinical criteria [4,5] and zaspopathy [6,7] was first reported as a distal muscular dystrophy.…”

Section: Introductionmentioning

confidence: 99%

Myofibrillar myopathies

Selcen¹

2010

Current Opinion in Neurology

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“…Zaspopathy is a well characterized autosomal dominant MFM (7,8) caused by single amino acid substitutions in the Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) (9). The A165V mutation is located within an evolutionarily conserved, 26-amino acid, ZASP-like motif encoded by exon 6, referred to here as striated muscle ZM or sZM.…”

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confidence: 99%

Z-disc-associated, Alternatively Spliced, PDZ Motif-containing Protein (ZASP) Mutations in the Actin-binding Domain Cause Disruption of Skeletal Muscle Actin Filaments in Myofibrillar Myopathy

Lin

Ruiz

Bajraktari

et al. 2014

Journal of Biological Chemistry

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Background:The binding partners of the ZASP internal region that is mutated in zaspopathy are not yet known. Results: The internal region of ZASP binds to skeletal muscle ␣-actin, and zaspopathy mutations cause actin disruption. Conclusion: ZASP mutations in the actin-binding domain are deleterious to the muscle Z-disc structure. Significance: ZASP-actin interaction expands the role of ZASP and defines the mechanism of zaspopathy.

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“…In contrast to the much more common hereditary myopathies (muscular dystrophies), which have proximal muscle predilection, distal myopathies begin with weakness in the feet or hands. Several classifications have been proposed for this heterogenous group of disorders, and examples of distal myopathy subtypes include Miyoshi et al [3], Welander [4]and Markesbery et al [5]. These subclassifications have largely been proposed on the assumption that similar phenotypic presentation is tantamount to etiologic commonality or identity [1, 6].…”

Section: Introductionmentioning

confidence: 99%

Linkage of Hereditary Distal Myopathy with Desmin Accumulation to 2q

et al. 2000

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We are investigating the genetics of a large family with an autosomal dominant form of hereditary distal myopathy. This slowly progressive myopathy begins during early adulthood in the distal leg muscles, producing a gait disturbance. Cardiomyopathy is also present in most affected family members, manifesting itself as conduction block or congestive heart failure. Histologically, an accumulation of the protein, desmin, occurs in the subsarcolemmal spaces of myofibers. We have performed linkage analyses of this family, and have mapped the location of the gene causing the myopathy to human chromosome 2q33. The gene is within a 17-cM segment of chromosome 2q bounded by the DNA markers D2S2248 and D2S401. The best candidate gene for this myopathy is desmin.

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Late onset hereditary distal myopathy

Cited by 119 publications

References 0 publications

Myofibrillar myopathies

Myofibrillar myopathies

Z-disc-associated, Alternatively Spliced, PDZ Motif-containing Protein (ZASP) Mutations in the Actin-binding Domain Cause Disruption of Skeletal Muscle Actin Filaments in Myofibrillar Myopathy

Linkage of Hereditary Distal Myopathy with Desmin Accumulation to 2q

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