title: Magnetic resonance imaging of muscle in nemaline myopathy.
abstract: We report muscle MRI findings of 10 patients from 8 families with nemaline myopathy. Patients with involvement of the nebulin (NEB) gene showed a consistent pattern of selective muscle involvement corresponding to clinical severity. In mild cases, there was complete sparing of thigh muscles and selective involvement of tibialis anterior and soleus. In moderate cases, there was predominant involvement of rectus femoris, vastus lateralis and hamstring muscles and diffuse involvement of anterior compartment and soleus. Patients with nemaline myopathy secondary to mutations in the skeletal muscle alpha-actin (ACTA1) gene showed diffuse involvement of thigh and leg muscles with relative sparing of the gastrocnemii. Selective muscle involvement in both genetic categories was distinct from what has been reported in other congenital myopathies. We conclude that muscle MRI may be applied to distinguish nemaline myopathy from other conditions with similar clinical and histopathological features, to supplement clinical assessment in individual patients and to help direct genetic testing.
authors.affiliation: Department of Paediatric Neurology, Guy's Hospital, London, UK. h.jungbluth@imperial.ac.uk
authors.forename: Heinz
authors.initials: H
authors.lastname: Jungbluth
authors.forename: Caroline A
authors.initials: CA
authors.lastname: Sewry
authors.forename: Serena
authors.initials: S
authors.lastname: Counsell
authors.forename: Joanna
authors.initials: J
authors.lastname: Allsop
authors.forename: Arijit
authors.initials: A
authors.lastname: Chattopadhyay
authors.forename: Eugenio
authors.initials: E
authors.lastname: Mercuri
authors.forename: Kathryn
authors.initials: K
authors.lastname: North
authors.forename: Nigel
authors.initials: N
authors.lastname: Laing
authors.forename: Graeme
authors.initials: G
authors.lastname: Bydder
authors.forename: Katarina
authors.initials: K
authors.lastname: Pelin
authors.forename: Carina
authors.initials: C
authors.lastname: Wallgren-Pettersson
authors.forename: Francesco
authors.initials: F
authors.lastname: Muntoni
mesh_terms: D000199:Actins / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007866:Leg / Q000473:pathology* / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D017696:Myopathies, Nemaline / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D010641:Phenotype; D011237:Predictive Value of Tests
chemical_list: D000199:Actins; D009124:Muscle Proteins; C035620:nebulin