Dynamin 2-related centronuclear myopathy: Clinical, histological and genetic aspects of further patients and review of the literature

Clinical utility gene card for: Centronuclear and myotubular myopathies

“…34 For instance, a triad of morphological abnormalities is usually found in DNM2-related CNM: increased numbers of central and internal nuclei, radiating sarcoplasmic strands with oxidative enzyme reactions (so called 'spokes on a wheel') and type 1 muscle fibre predominance and hypotrophy. 15,35,36 In MTM1-related CNM, an increased number of centralized nuclei and type 1 muscle fibre predominance and hypotrophy are reported and may be accompanied by the presence of necklace fibers, at least in adult cases. 37 To get the best of the morphological study of CNM, one should analyze the muscle biopsies with both histoenzymology and electron microscopy.…”

Identification of a Location at Chromosome 19p in a Big Chinese Family with Charcot-Marie-Tooth Disease

“…But we found a "C" insertion in the DNM2 gene intron between the exon3 and 4, in four affected family members (Ⅲ:22, Ⅲ:24, Ⅳ:3 and Ⅳ:4), the other affected or normal family members did not have the insertion (Figure 3). DNM2 mutations can also be identified in DNM2-CNM patients [9,[18][19][20]. The clinical and pathological features of DNM2-CNM were plantar muscle, calf and posterior atrophy [20], cardiac or respiratory failure, ptosis or ophthalmoplegia [18].…”

Congenital myopathies: not only a paediatric topic

“…Respiratory involvement is a feature in more severely affected infants and may improve over time [46,50,61,65]. Dominant intermediate CMTDIB [70] and axonal CMTM [71] are allelic conditions, and, although DNM2 mutations implicated in CNM and CMT are distinct, there may be some clinical overlap in individual cases, as evidenced by frequently absent deep tendon reflexes and variable neurophysiological and neuropathological evidence for an associated mild neuropathy [49,60,64,67,68,72]. An associated neuromuscular transmission defect and positive response to acetylcholinesterase inhibitors has been reported [73].…”

“…Although more severe cases have been reported [46,61], affected individuals typically present in adolescence or adulthood [60,[62][63][64], occasionally as late as the 6 th decade. Exertional myalgia may be a presenting feature.…”

“…Additional multisystem involvement featuring neutropenia [52,69] or cataracts [61,74] has occasionally been observed. Muscle MRI may help to distinguish DNM2-related from other congenital myopathies [64,66].…”