Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype

Berciano, José; Gallardo, Eduard; Domínguez‐Perles, Raúl; García, Antonio García y; García-Barredo, Rosario; Combarros, Onofre; Infante, Jon; Illa, Isabel

doi:10.1136/jnnp.2007.125435

Cited by 31 publications

(22 citation statements)

References 14 publications

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“…Furthermore, the presence of a pacemaker generally prohibits MRI studies while CT scans have less contrast and involve radiation exposure. Muscle imaging can be much less useful in asymptomatic patients or in patients in very early disease stages as it might not show any involvement (e.g., patient 33 with filaminopathy) or only alterations of a single muscle (soleus in myotilinopathy31) not being sufficient for a correct classification. Also, patients in very advanced stages with severe muscle degeneration may not show a distinctive pattern.…”

Section: Discussionmentioning

confidence: 99%

Distinct muscle imaging patterns in myofibrillar myopathies

Fischer

Kley²,

Strach³

et al. 2008

Neurology

199

137

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Objective To compare muscle imaging findings in different subtypes of myofibrillar myopathies (MFM) in order to identify characteristic patterns of muscle alterations that may be helpful to separate these genetic heterogeneous muscular disorders. Methods Muscle imaging and clinical findings of 46 patients with MFM were evaluated (19 desminopathy, 12 myotilinopathy, 11 filaminopathy, 1 αB-crystallinopathy, and 3 ZASPopathy). The data were collected retrospectively in 43 patients and prospectively in 3 patients. Results In patients with desminopathy, the semitendinosus was at least equally affected as the biceps femoris, and the peroneal muscles were never less involved than the tibialis anterior (sensitivity of these imaging criteria to detect desminopathy in our cohort 100%, specificity 95%). In most of the patients with myotilinopathy, the adductor magnus showed more alterations than the gracilis muscle, and the sartorius was at least equally affected as the semitendinosus (sensitivity 90%, specificity 93%). In filaminopathy, the biceps femoris and semitendinosus were at least equally affected as the sartorius muscle, and the medial gastrocnemius was more affected than the lateral gastrocnemius. The semimembranosus mostly showed more alterations than the adductor magnus (sensitivity 88%, specificity 96%). Early adult onset and cardiac involvement was most often associated with desminopathy. In patients with filaminopathy, muscle weakness typically beginning in the 5th decade of life was mostly pronounced proximally, while late adult onset (>50 years) with distal weakness was more often present in myotilinopathy. Conclusions Muscle imaging in combination with clinical data may be helpful for separation of distinct myofibrillar myopathy subtypes and in scheduling of genetic analysis.

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Section: Discussionmentioning

confidence: 99%

Distinct muscle imaging patterns in myofibrillar myopathies

Fischer

Kley²,

Strach³

et al. 2008

Neurology

199

137

View full text Add to dashboard Cite

show abstract

“…Peripheral neuropathy, reflected by clinical, EMG, and histologic criteria, or by a combination of these, was apparent in all patients. Subsequent studies by other investigators identified additional patients with mutations in MYOT, including the kinship originally described under the rubric of "spheroid body myopathy" [11,[45][46][47]. Some kinships show intrafamily phenotypic variability.…”

Section: 23mentioning

confidence: 99%

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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“…Moreover, we found that distal myopathy, cardiomyopathy and peripheral neuropathy can be facets of myotilinopathy. Subsequent studies by other investigators identified additional patients with mutations in MYOT , including the kinship originally described under the rubric of “spheroid body myopathy” [6,21–23]. Some kinships also show intrafamily phenotypic variability.…”

Section: Myotilinopathy Subset Of Mfmmentioning

confidence: 99%

Myofibrillar myopathies

Selcen¹

2008

Current Opinion in Neurology

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Purpose of review The aim of this communication is to provide an up-to-date overview of myofibrillar myopathies (MFMs). Recent findings The most important recent advance in the MFMs has been the identification of mutation Bag3 (Bcl-2-associated athanogene-3) as a new cause of MFM. Although, the typical clinical manifestations of MFMs are slowly progressive weakness, the patients with Bag3opathy may have had a rapidly progressive and more severe phenotype. Summary Several MFM disease genes have recently been recognized. The identified disease proteins (desmin, αB-crystallin, myotilin, Zasp, filamin C, and Bag3) interact with components or with chaperones of the Z-disk. In each case the molecular defect leads to a largely stereotyped cascade of structural perturbation of the muscle fiber architecture.

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Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype

Cited by 31 publications

References 14 publications

Distinct muscle imaging patterns in myofibrillar myopathies

Distinct muscle imaging patterns in myofibrillar myopathies

Myofibrillar myopathies

Myofibrillar myopathies

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