Table 7.

Previously reported cases of cytoplasmic body myopathy with early respiratory failure

Author, year	N	Onset age (years)	Myopathy characteristics	Other clinical features	Neurophysiology	Pathologic features	Outcome	Inheritance, linkage region
Kinoshita, 1975	1	16	Severely affected: respiratory, sternomastoid, proximal, tibialis anterior muscles Moderately affected: facial/bulbar muscles Calf hypertrophy, areflexia, contractures	Micrognathia, cleft palate	EMG: myopathic changes	Inclusions in muscle fibre periphery. Thickened Z-discs and disorganized myofibrillar material	Death at 23 years from RF	Sporadic, N/A
Jerusalem, 1979	1	Childhood	Respiratory, axial and shoulder muscle weakness		EMG: active neurogenic changes	Numerous cytoplasmic bodies in type I fibres. Endoplasmic reticulum dilations in axons	Death at 31 years from RF	Sporadic, N/A
Patel, 1983	3	Childhood	Two patients severely affected: intercostal, sternomastoid muscles Other affected: facial and proximal muscles 1 patient: Mild proximal myopathy	Scoliosis, dysmorphic features, cardiac hypertrophy and conduction defects, constipation	EMG: myopathic changes	Cytoplasmic bodies predominant in type I fibres	14M death by RF 15F ventilator assist for respiratory infections. 55F proximal myopathy, benign course	Autosomal dominant or recessive, N/A
Winter, 1986	1	25	Respiratory and proximal muscle weakness	Polydactyly, neck stiffness	EMG: myopathic features. Diaphragmatic paralysis with phrenic nerve stimulation	Eosinophilic cytoplasmic bodies, mainly in type I fibres and internal nuclei	Requiring intermittent positive pressure ventilation at night	Sporadic, N/A
Chapon, 1989	3	18, 40, 44	Respiratory, axial and proximal weakness	Mild cardiac hypokinesis in one patient	EMG: myopathic changes.	Cytoplasmic bodies in type I fibres		Autosomal dominant, N/A
Edstrom, 1990	16 (3 families)	14–50	Respiratory, proximal and sternomastoid weakness		EMG: myopathic changes	Myofibrillar lesions in Z-disks and distributed filamentous masses. Cytoplasmic bodies		Autosomal dominant, 2q24-31, R279W TTN mutation (Lange, 2005)
Bertini, 1990	1	1	Respiratory failure, bulbar/neck flexor weakness	Hyporeflexia	EMG: myopathic changes	Inclusions with positive immunostaining for desmin and actin	Death at 14 months from RF	Sporadic
Abe, 1993	5	35–48	Respiratory and distal muscle weakness, worst in tibialis anterior	Weight loss, finger contractures	EMG: myopathic changes, slight neurogenic changes	Eosinophilic inclusions. Cytoplasmic bodies predominantly in type I fibres	Early death from RF in some family members	Autosomal dominant, N/A
Baeta, 1996	1	67	Respiratory failure (limited clinical information)	Cardiomyopathy		Cytoplasmic bodies predominantly in type I fibres		Autosomal dominant, N/A
Evangelista, 2009	1	74	Hip flexor weakness, respiratory fatigue	Symptoms provoked by HMG-CoA reductase inhibitor therapy and improved with cessation	NCS: sensorimotor polyneuropathy EMG: myopathic changes, mild neurogenic changes	Eosinophilic inclusions (termed as cytoplasmic bodies but no EM analysis)	Resolution with cessation of HMG CoA reductase inhibitor	Sporadic, N/A
Tasca, 2010	1	32	Respiratory failure, neck flexor, hip flexor, hip flexor, tibialis anterior, peroneal weakness. Scapular winging and nasal voice			Eosinophilic inclusions. Diffuse IHC staining for sarcoplasmic proteins. Cytoplasmic bodies on EM. Z-line abnormalities		Sporadic, N/A (R279W TTN mutation was excluded)
Chinnery, 2001; Birchall, 2005; current study	31 (3 families)	22–71	Respiratory failure, proximal and/or distal muscle weakness, some patients with neck flexor weakness		EMG: myopathic and active neurogenic changes	Eosinophilic inclusions, some rimmed vacuoles, no fibre-type predominance. No cytoplasmic bodies on EM	Slowly progressive course. Early death from RF in one patient. Night-time CPAP and walking aids for several family members	Autosomal dominant, 2q24-31, p.Cys30071Arg TTN mutation

CPAP = continuous positive airway pressure; EM = electron microscopy; EMG = electromyography; IHC = immunohistochemistry; NCS = nerve conduction studies; RF = respiratory failure; M = male; F = female; HMG-CoA = 3-hydroxy-3-methyl-glutaryl-coenzyme A.