title: Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations.
abstract: Beta-tropomyosin 2 (TPM2) gene mutations are a rare cause of congenital myopathy with variable clinical and histological features. We describe muscle involvement using Whole-Body muscle Magnetic Resonance Imaging (WBMRI) in 8 individuals with genetically proven TPM2 mutations and different clinical and histological features (nemaline myopathy, 'cap disease', Bethlem-like phenotype, arthrogryposis). Most patients shared a recognizable MRI pattern with the involvement of masticatory and distal lower leg muscles. The lower leg showed constant soleus muscle involvement, and often also involvement of peroneus, tibialis anterior, and toe flexor muscles. Pelvic and shoulder girdles, and upper limbs muscles were quite spared. Two adult subjects (a patient and a paucisymptomatic parent) had a more diffuse involvement with striking fat infiltration of the rectus femoris muscle. Two children showed variant findings: one presented with masseter involvement associated with severe axial fat infiltration, the second had masticatory and distal leg muscle involvement (soleus and gastrocnemius muscles). Our study suggests that, independently of the clinical and histological presentation, most patients with TPM2 mutations show a predominant involvement of masticatory and distal leg muscles with the other regions relatively spared. More spread involvement may be observed. This cephalic-distal MRI pattern is not frequent in other known myopathies.
authors.affiliation: AP-HP, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Pôle neuro-locomoteur, Hôpital R. Poincaré. Service d'imagerie médicale, Groupe Rachis Garches, F-92380 Garches, France. mjarraya@bu.edu
authors.forename: Mohamed
authors.initials: M
authors.lastname: Jarraya
authors.forename: Susana
authors.initials: S
authors.lastname: Quijano-Roy
authors.forename: Nicole
authors.initials: N
authors.lastname: Monnier
authors.forename: Anthony
authors.initials: A
authors.lastname: Béhin
authors.forename: Daniela
authors.initials: D
authors.lastname: Avila-Smirnov
authors.forename: Norma Beatriz
authors.initials: NB
authors.lastname: Romero
authors.forename: Valérie
authors.initials: V
authors.lastname: Allamand
authors.forename: Pascale
authors.initials: P
authors.lastname: Richard
authors.forename: Annie
authors.initials: A
authors.lastname: Barois
authors.forename: Adrien
authors.initials: A
authors.lastname: May
authors.forename: Brigitte
authors.initials: B
authors.lastname: Estournet
authors.forename: Eugenio
authors.initials: E
authors.lastname: Mercuri
authors.forename: Pierre G
authors.initials: PG
authors.lastname: Carlier
authors.forename: Robert-Yves
authors.initials: RY
authors.lastname: Carlier
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology*; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D012189:Retrospective Studies; D014335:Tropomyosin / Q000235:genetics*; D051598:Whole Body Imaging; D055815:Young Adult
chemical_list: C518659:TPM2 protein, human; D014335:Tropomyosin