Nemaline myopathy: A report of four cases

Annals of Indian Academy of Neurology

Volumn 10, Issue 3, 2007, Pages 175-177

  Deepti, A ^a   Gayathri, N ^a   Veerendra Kumar, M ^a   Shankar, Susarla ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH AND NEUROSCIENCES   (India)

Author keywords

Myopathy; Nemaline rods; Z disc

Indexed keywords

CREATINE KINASE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CREATINE KINASE BLOOD LEVEL; DISEASE COURSE; ELECTROMYOGRAPHY; FALLING; FEMALE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE HYPOTONIA; MUSCLE TONE; MUSCLE WEAKNESS; NEMALINE MYOPATHY; PRESCHOOL CHILD; RECESSIVE INHERITANCE; SKELETON MALFORMATION; TENDON REFLEX;

EID: 34948881184     PISSN: 09722327     EISSN: None     Source Type: Journal    
DOI: 10.4103/0972-2327.34798     Document Type: Article

References (7)

1. Goebel HH, Warlo I. Nemaline myopathy with intranuclear rodsintranuclear myopathy. Neuromuscul Disord 1997;7:13-9.
2. Ryan MM, Ilkovski B, Strickland CD, Shnell C, Sanoudou D, Midgett C, et al. Clinical course correlates poorly with muscle pathology in nemaline myopathy. Neurology 2003;60:665-73.
3. Gurgel-Giannetti J, Bang ML, Reed U, Marie S, Zatz M, Labeit S, et al. Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy. Muscle Nerve 2002;25:747-52.
4. Goebel HH. Congenital myopathies at their molecular dawning. Muscle Nerve 2003;27:527-48.
5. Sharma MC, Gulati S, Atri S, Seth R, Kalra V, Das TK, Sarkar C. Nemaline rod myopathy: A rare form of myopathy. Neurol India 2007;55:70-4.
6. Goebel HH, Laing NG. Nemaline myopathies. In: Karpati G, editor. Structural and molecular basis of skeletal muscle diseases. ISN Neuropath Press: Basel; 2002. p. 74-7.
7. Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, Iannaccone ST, et al. Nemaline myopathy: A clinical study of 143 cases. Ann Neurol 2001;50:312-20.