Child Neurology: A Case of FHL1-Related Disease Presenting as Inflammatory Myopathy

Neurology. 2021 Mar 2;96(9):e1383-e1386. doi: 10.1212/WNL.0000000000011320. Epub 2020 Dec 23.

Authors

André Macedo Serafim Silva¹, Clara Gontijo Camelo², Ciro Matsui-Júnior², Rodrigo de Holanda Mendonça², Lúcia Maria Campos², Adriana Maluf Elias², Clovis Artur Silva¹, Umbertina Conti Reed², Edmar Zanoteli²

Affiliations

¹ From the Department of Neurology (A.M.S.S., C.G.C., C.M.-J., R.d.H.M., U.C.R., E.Z.) and Pediatric Rheumatology Unit, Instituto da Criança (L.M.C., A.M.E., C.A.S.), Hospital das Clínicas HCFMUSP, Faculdade de Medicina da Universidade de São Paulo, Brazil. andremacedo@usp.br.
² From the Department of Neurology (A.M.S.S., C.G.C., C.M.-J., R.d.H.M., U.C.R., E.Z.) and Pediatric Rheumatology Unit, Instituto da Criança (L.M.C., A.M.E., C.A.S.), Hospital das Clínicas HCFMUSP, Faculdade de Medicina da Universidade de São Paulo, Brazil.

PMID: 33361250
DOI: 10.1212/WNL.0000000000011320

No abstract available

Publication types

Case Reports

MeSH terms

Atrophy
Child, Preschool
Creatine Kinase / blood
Edema / etiology
Electromyography
Exome / genetics
Female
Humans
Immunosuppressive Agents / therapeutic use
Inflammation / diagnostic imaging
Inflammation / pathology
Intracellular Signaling Peptides and Proteins / genetics*
LIM Domain Proteins / genetics*
Magnetic Resonance Imaging
Muscle Proteins / genetics*
Muscle Weakness / etiology
Muscle, Skeletal / diagnostic imaging
Muscle, Skeletal / pathology
Myalgia / etiology
Myositis / diagnostic imaging
Myositis / pathology*

Substances

FHL1 protein, human
Immunosuppressive Agents
Intracellular Signaling Peptides and Proteins
LIM Domain Proteins
Muscle Proteins
Creatine Kinase