Myosin storage myopathy associated with a heterozygous missense mutation in <i>MYH7</i>

Homa Tajsharghi, Lars‐Eric Thornell, Christopher Lindberg, +3

Annals of Neurology

Autosomal dominant myopathy: Missense mutation (Glu-706 → Lys) in the myosin heavy chain IIa gene

Tommy Martinsson, Anders Oldfors, Niklas Darín, +4

Proceedings of the National Academy of Sciences

Glycogenin-1 Deficiency and Inactivated Priming of Glycogen Synthesis

Ali‐Reza Moslemi, Christopher Lindberg, Johanna Nilsson, +3

New England Journal of Medicine

Cardiac MuscleCardiomyopathyBiosynthesisBiochemistrySkeletal Muscle +10

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

Monica Ohlsson, Carola Hedberg, Björn Brådvik, +7

Brain

Mitochondrial MyopathyRare DiseasesEarly Respiratory FailureMendelian DisorderTitin Gene +12

Congenital Myopathy With Nemaline Rods and Cap Structures Caused by a Mutation in the β-Tropomyosin Gene (TPM2)

Homa Tajsharghi, Monica Ohlsson, Christopher Lindberg, +1

Archives of Neurology

Embryonic Myosin Heavy-Chain Mutations Cause Distal Arthrogryposis and Developmental Myosin Myopathy That Persists Postnatally

Homa Tajsharghi, Eva Kimber, Anna‐Karin Kroksmark, +3

Archives of Neurology

Distal arthrogryposis and muscle weakness associated with a β-tropomyosin mutation

Homa Tajsharghi, Eva Kimber, Daniel Holmgren, +2

Neurology

MechanobiologyMuscle FunctionMolecular PhysiologySkeletal MusclePathology +11

Homozygous mutation in <i>MYH7</i> in myosin storage myopathy and cardiomyopathy

Homa Tajsharghi, Anders Oldfors, D MacLeod, +1

Neurology

Cardiac MuscleHeart FailureGeneticsGenetic EpidemiologyMolecular Biology +20

Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age

Homa Tajsharghi, Lars‐Eric Thornell, Niklas Darín, +4

Neurology

New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations

Montse Olivé, Saba Abdul-Hussein, Anders Oldfors, +10

Human Molecular Genetics

Cardiac MuscleHeart FailureMuscle FunctionFamily MembersGenetics +24