Hereditary myopathy with early respiratory failure (HMERF)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Hereditary myopathy with early respiratory failure (HMERF). This is a titinopathy. Fully referenced neurology checklist.
Genetics
- This is a titinopathy
- It is caused by mutations in the titin (TTN) gene
- The gene encodes fibronectin 3 (FN3)
TTN gene related disorders
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Clinical features
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Differential diagnosis: other myopathies with respiratory involvement
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Magnetic resonance imaging (MRI): affected muscles
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Muscle biopsy: features
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Acronym
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References
- Uruha A, Nishino I. Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare. JNNP 2014; 85:248.
- Pfeffer G, Barresi R, Wilson IJ, et al. Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. JNNP 2014; 85:331-338.
- Pfeffer G, Elliott HR, Griffin H, et al. Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain 2012; 135:1695-1713.
- Palmio J, Evila A, Chapon F, et al. Hereditary myopathy with early respiratory failure: occurrence in various populations. JNNP 2014; 85:345-353.
- Uruha A, Hayashi YK, Oya Y, et al. Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure. JNNP 2015; 86:483-489.
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